{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0009377/OMIM:237310","label":"N-acetylglutamate synthase deficiency","mondoId":"MONDO:0009377","onsetQualifier":null,"recordKeys":["0b69eb1d5d58f4703ee40dfd96f872d3e6566f6ad853581ef0efe035166c9d27","1050aba4fa72256df1c662b2b4476b4eff2a655d5b42d9dd345b2cd629cf37db","1614250906dd3fd3ddeccc83003fa2e93ca5ab0c36fb8dddbaed7471373ffe19","2008c532b524e35dcaa918efc88862ac535c92515c37fcdee7c94bc768c4e9c8","40d7254bb8196aa31f2dffb21d559d65628cd15df3b781df4a17d71ef1b4094d","50289d70474bb3ca42ab4c8b796fd31e393e5e9d1dbdc7ca268ff4a0ba6cbfc0","50a3ec7971d7aee38f263472f57b4832a932572f1f057ed077a870b976748c9f","5a5b923fb86a278115d905b180d29f954976969c4cf76006031bc56b3b745bc9","61d0214bf46a443d1b92c1eb33e6d1e378fa6d9f741ebf547a2a332d11549e34","6c06b67789af3e6ae12ebd843e2f395110f99677b53fef17828472bd312ca9ab","7e9f56c6aefb815b4c79214c5972079bd53f86edba410c49b4fc06162eaccf04","808fbbd13020369253c26d53f6c244a12bf5ebe722b0e2b9a52c9017b582ec17","87aff567abc3f2f64a2d82be6579044a32f597edddb20c141a72ecf5ec7c6798","a2054f27783ed88ca83b11c5a11fd6bc341cdd1ed2c7c745edd02ee9b6861cfe","a25c9b3361321ec04d728cd4a3871e10936bb03dbcf774af7c8502afb9ece949","b60d3cbf2cdb19017e121b498f98f8451bc6408a80df58903bb0400d395a8283","bf0c02be3f17312522363bdbd913cc2b48164ac531199207ea50b0ddd6218c9b","c18b861613dc6599cd5c909a7b20103e3398e1e53ae13e90396a9ab1b4b94ae5","d0582c82de9e55296e4f0c8a49671edad0a21c8e25526f0aebaa088a1c44f752","f4cc4f01f841fc25cbf996ab7a9ec5f42a0b808caf7c018c07d3e4c8c7201560","fe0ea13f926e464e62b5af165cd35610fd4ff752106db0dea8ff0c65abb67ef1"],"recordQualifiers":{},"scopeLabel":"OMIM:237310","sourceIds":["OMIM:237310"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009377/ORPHA:927","label":"Hyperammonemia due to N-acetylglutamate synthase deficiency","mondoId":"MONDO:0009377","onsetQualifier":null,"recordKeys":["00ac4acf4300cb1774970865e3a363d3cc9a4f9937b8f6068aa494b4c336c95c","02396ed8cf87c763e79a339ec195ccd6df31b110f9392170687e2fb591a7b7a1","13caf164fd75f8d53a612ca2a0634a48c50122a4cc2c3554b45aedd9bd7bd983","1b8315c9769991f467a53652ebf502a44bfaf9030d6e182f9145f256e23aa0ba","1e6ad73d62ca2e83524267c8a288a6332ba66b3565b7b98d7c094336eee4c914","20964f53eca67653fa4ed0f3064de4423809b482065ac02372f7972e1e761aba","2470d8fa40e90d59c8b847b410291874a47e5c31e2bc7551c3cc2ba5dfd53ae5","303f8c0146901c975ac0f164cdb43009b1e818317c34310f0a109dbbbfdc67c4","48ba3f0f423e4f2f01df15b3ca1ea27468a5ae3c227037f548501f5569ed91bf","4bf1cc6d4b692f9b7755a9aba9b867873c366b0ae690767fbc94371e9dd77bcb","4f61dffbf07124d716d093c163683a515d0b018911597e24a528ddc88feed632","5a79c42cc40084d2f236c1cdb30157f399337e2aee74de63ea4997802c67a173","5dc37c0e86b7c92b82fb7a35bcbb8d62c1d31f5caa727e2f5d3bb506c8c60c1d","5f761d6dde1ea8d8fbd8f8c2483ec427b9ff960708bcb037a0f8b942a6324a0b","6c53f566379bf4b69f3d14bdf207595d7d5d204231c3d93c5e0affe243aca869","76b2d129a7bb4c1700b657e460bae546d37aece100a2cdc726ddc8c13ecc3e8f","84f62445f7eb50502c76cbf07a4481aca8d65279bd4c417dd85e2a493de22ee8","8f505a26045c8949aa3fc46d213f517cb1f5e0eb0e68cad73c944418fe39ba99","9e6d0bbfc62c92a4515de2e2898280826075c86c4f70435f08a522d9e70dccbe","a601e45aee34d3ec1b387ad503a535b541b353174c1e15aea842b40bb4deeaed","acdefdaa14e332d8abadf2d42d3d807c03c71f3d9da66648e6dce88e9d337bf9","ae2553e90c3635d934489e6b58fc59eab0063954a487f610e521b0d1cbc191b0","b6c49fc1c9aed85e9257f93e87388f5311b2755dd68464c41e38cc0c953976e8","b80711d28c9dea1cbbe1169aa84b477e45ae1fab77fb63b92d9ea5a60b1eb41c","becc6233db5931ae6d6cf9ee57eef3886fa75b7fadd24111b1527b63ce2014f8","c275cce0b2b03339db85de5eea3b8f3da241c816edb5ef34940c15647c8543bc","c41953c126f1c821b6862f0cf28297adc72e684f7c89d3fce3896e96ad593873","ccff4bb6e134e381f1cee0286e61cb0ce3261a612c29cb450ad403ea9f8646fc","cdc059d1304abb593408b8003123f6aafa2caa88d7531ce48b25a7c871692944","cf50576eac220000fb0f26b984811baba5d68051ec86249464955458a2642fa5","d625eec85dd61f587955a41e0d13db42b5044356d5caca1c8e18f31f8ab7417d","d9a9f310422c9b1fe61d7f6c2347234017e044f87884c035a6f38be948d778af","dc45607f2a7c404376bc5a4be3eef414cc684a39f996066119193196908027cd","e016072a19470f5494060afb8924a13281ca8ccd2755ed98fc39be0040b4a666","e1e24b201f6f816b001d2192048a7db5f5a7c146200c2be2a330a3a3c210c4a0","e616bca08718db611efcaf0ae5e4aebcd1fa37459d2d3e4801dbe073c14a3db5","e99f4a4a21aa76f2386cc0679c3b533da44d011eb58f07534bdc26d62af9b30b","f5d51541ab4558128ae9fa0624fda2f6e4f09b52ed1751d08d074b4be11e038a","f69f4d064d99c3c511a5a462b2e27ebedeaae51bb22a00f94284ca560b34eb2d","f736c8bf586ac00622ab31ffe9f443f1b7c3e20be6f9e0041377abc9a10ee76b","f8f9a84b6c0801e113a1592fd3ffdf69425f1fe44cd741be4063e319c4e5ba6d","fb971c8b949584dad0b64b2da305361fa50c0db1d0c799c0aff0da8c3e41c448"],"recordQualifiers":{},"scopeLabel":"ORPHA:927","sourceIds":["ORPHA:927"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0009377/OMIM:237310","MONDO:0009377/ORPHA:927"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":17,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":63,"sourceGroups":{"omim":4,"orphanet":42,"published":17}},"features":[{"hpoId":"HP:0008281","label":"Acute hyperammonemia","primary":false},{"hpoId":"HP:0000718","label":"Aggressive behavior","primary":false},{"hpoId":"HP:0000713","label":"Agitation","primary":false},{"hpoId":"HP:0001948","label":"Alkalosis","primary":false},{"hpoId":"HP:0002039","label":"Anorexia","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0002637","label":"Cerebral ischemia","primary":false},{"hpoId":"HP:0020221","label":"Clonic seizure","primary":false},{"hpoId":"HP:0100543","label":"Cognitive impairment","primary":false},{"hpoId":"HP:0001259","label":"Coma","primary":false},{"hpoId":"HP:0001289","label":"Confusion","primary":false},{"hpoId":"HP:0031258","label":"Delirium","primary":false},{"hpoId":"HP:0002014","label":"Diarrhea","primary":false},{"hpoId":"HP:0002329","label":"Drowsiness","primary":false},{"hpoId":"HP:0010529","label":"Echolalia","primary":false},{"hpoId":"HP:0000712","label":"Emotional lability","primary":false},{"hpoId":"HP:0001298","label":"Encephalopathy","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0012378","label":"Fatigue","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0008947","label":"Floppy infant","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0002315","label":"Headache","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0003348","label":"Hyperalaninemia","primary":false},{"hpoId":"HP:0001987","label":"Hyperammonemia","primary":false},{"hpoId":"HP:0500149","label":"Hyperglutamatemia","primary":false},{"hpoId":"HP:0003217","label":"Hyperglutaminemia","primary":false},{"hpoId":"HP:0001276","label":"Hypertonia","primary":false},{"hpoId":"HP:0002045","label":"Hypothermia","primary":false},{"hpoId":"HP:0100785","label":"Insomnia","primary":false},{"hpoId":"HP:0001254","label":"Lethargy","primary":false},{"hpoId":"HP:0007185","label":"Loss of consciousness","primary":false},{"hpoId":"HP:0003572","label":"Low plasma citrulline","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000733","label":"Motor stereotypy","primary":false},{"hpoId":"HP:0002863","label":"Myelodysplasia","primary":false},{"hpoId":"HP:0002018","label":"Nausea","primary":false},{"hpoId":"HP:0010550","label":"Paraplegia","primary":false},{"hpoId":"HP:0001271","label":"Polyneuropathy","primary":false},{"hpoId":"HP:0004396","label":"Poor appetite","primary":false},{"hpoId":"HP:0002465","label":"Poor speech","primary":false},{"hpoId":"HP:0000725","label":"Psychotic episodes","primary":false},{"hpoId":"HP:6000161","label":"Reduced hepatic N-acetylglutamate synthase activity","primary":false},{"hpoId":"HP:0002098","label":"Respiratory distress","primary":false},{"hpoId":"HP:0006582","label":"Reye syndrome-like episodes","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0001297","label":"Stroke","primary":false},{"hpoId":"HP:0002789","label":"Tachypnea","primary":false},{"hpoId":"HP:0002013","label":"Vomiting","primary":false}],"ledeHtml":"N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.","mondoId":"MONDO:0009377","records":[{"frequencyKind":"range","key":"00ac4acf4300cb1774970865e3a363d3cc9a4f9937b8f6068aa494b4c336c95c","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0006582","is_excluded":false,"label":"Reye syndrome-like episodes","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"02396ed8cf87c763e79a339ec195ccd6df31b110f9392170687e2fb591a7b7a1","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004396","is_excluded":false,"label":"Poor appetite","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0b69eb1d5d58f4703ee40dfd96f872d3e6566f6ad853581ef0efe035166c9d27","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002045","is_excluded":false,"label":"Hypothermia","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1050aba4fa72256df1c662b2b4476b4eff2a655d5b42d9dd345b2cd629cf37db","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0003572","is_excluded":false,"label":"Low plasma citrulline","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"13caf164fd75f8d53a612ca2a0634a48c50122a4cc2c3554b45aedd9bd7bd983","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100543","is_excluded":false,"label":"Cognitive impairment","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1614250906dd3fd3ddeccc83003fa2e93ca5ab0c36fb8dddbaed7471373ffe19","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001254","is_excluded":false,"label":"Lethargy","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1b8315c9769991f467a53652ebf502a44bfaf9030d6e182f9145f256e23aa0ba","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0010550","is_excluded":false,"label":"Paraplegia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1e6ad73d62ca2e83524267c8a288a6332ba66b3565b7b98d7c094336eee4c914","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001987","is_excluded":false,"label":"Hyperammonemia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2008c532b524e35dcaa918efc88862ac535c92515c37fcdee7c94bc768c4e9c8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"20964f53eca67653fa4ed0f3064de4423809b482065ac02372f7972e1e761aba","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001271","is_excluded":false,"label":"Polyneuropathy","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2470d8fa40e90d59c8b847b410291874a47e5c31e2bc7551c3cc2ba5dfd53ae5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001297","is_excluded":false,"label":"Stroke","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"303f8c0146901c975ac0f164cdb43009b1e818317c34310f0a109dbbbfdc67c4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000725","is_excluded":false,"label":"Psychotic episodes","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"40d7254bb8196aa31f2dffb21d559d65628cd15df3b781df4a17d71ef1b4094d","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"48ba3f0f423e4f2f01df15b3ca1ea27468a5ae3c227037f548501f5569ed91bf","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002018","is_excluded":false,"label":"Nausea","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4bf1cc6d4b692f9b7755a9aba9b867873c366b0ae690767fbc94371e9dd77bcb","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4f61dffbf07124d716d093c163683a515d0b018911597e24a528ddc88feed632","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002315","is_excluded":false,"label":"Headache","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"50289d70474bb3ca42ab4c8b796fd31e393e5e9d1dbdc7ca268ff4a0ba6cbfc0","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001987","is_excluded":false,"label":"Hyperammonemia","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"50a3ec7971d7aee38f263472f57b4832a932572f1f057ed077a870b976748c9f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100543","is_excluded":false,"label":"Cognitive impairment","onset_id":null,"reference":"OMIM:237310","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"5a5b923fb86a278115d905b180d29f954976969c4cf76006031bc56b3b745bc9","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0003348","is_excluded":false,"label":"Hyperalaninemia","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5a79c42cc40084d2f236c1cdb30157f399337e2aee74de63ea4997802c67a173","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001289","is_excluded":false,"label":"Confusion","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5dc37c0e86b7c92b82fb7a35bcbb8d62c1d31f5caa727e2f5d3bb506c8c60c1d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001298","is_excluded":false,"label":"Encephalopathy","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5f761d6dde1ea8d8fbd8f8c2483ec427b9ff960708bcb037a0f8b942a6324a0b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002465","is_excluded":false,"label":"Poor speech","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"61d0214bf46a443d1b92c1eb33e6d1e378fa6d9f741ebf547a2a332d11549e34","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002789","is_excluded":false,"label":"Tachypnea","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6c06b67789af3e6ae12ebd843e2f395110f99677b53fef17828472bd312ca9ab","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0001259","is_excluded":false,"label":"Coma","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6c53f566379bf4b69f3d14bdf207595d7d5d204231c3d93c5e0affe243aca869","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"76b2d129a7bb4c1700b657e460bae546d37aece100a2cdc726ddc8c13ecc3e8f","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7e9f56c6aefb815b4c79214c5972079bd53f86edba410c49b4fc06162eaccf04","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001948","is_excluded":false,"label":"Alkalosis","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"808fbbd13020369253c26d53f6c244a12bf5ebe722b0e2b9a52c9017b582ec17","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"OMIM:237310","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"84f62445f7eb50502c76cbf07a4481aca8d65279bd4c417dd85e2a493de22ee8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0031258","is_excluded":false,"label":"Delirium","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"87aff567abc3f2f64a2d82be6579044a32f597edddb20c141a72ecf5ec7c6798","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0500149","is_excluded":false,"label":"Hyperglutamatemia","onset_id":null,"reference":"PMID:7623444","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8f505a26045c8949aa3fc46d213f517cb1f5e0eb0e68cad73c944418fe39ba99","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001259","is_excluded":false,"label":"Coma","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9e6d0bbfc62c92a4515de2e2898280826075c86c4f70435f08a522d9e70dccbe","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a2054f27783ed88ca83b11c5a11fd6bc341cdd1ed2c7c745edd02ee9b6861cfe","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001276","is_excluded":false,"label":"Hypertonia","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a25c9b3361321ec04d728cd4a3871e10936bb03dbcf774af7c8502afb9ece949","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:6000161","is_excluded":false,"label":"Reduced hepatic N-acetylglutamate synthase activity","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a601e45aee34d3ec1b387ad503a535b541b353174c1e15aea842b40bb4deeaed","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"acdefdaa14e332d8abadf2d42d3d807c03c71f3d9da66648e6dce88e9d337bf9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000713","is_excluded":false,"label":"Agitation","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ae2553e90c3635d934489e6b58fc59eab0063954a487f610e521b0d1cbc191b0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002637","is_excluded":false,"label":"Cerebral ischemia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b60d3cbf2cdb19017e121b498f98f8451bc6408a80df58903bb0400d395a8283","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003217","is_excluded":false,"label":"Hyperglutaminemia","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b6c49fc1c9aed85e9257f93e87388f5311b2755dd68464c41e38cc0c953976e8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b80711d28c9dea1cbbe1169aa84b477e45ae1fab77fb63b92d9ea5a60b1eb41c","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"becc6233db5931ae6d6cf9ee57eef3886fa75b7fadd24111b1527b63ce2014f8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"bf0c02be3f17312522363bdbd913cc2b48164ac531199207ea50b0ddd6218c9b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"1/3","hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"OMIM:237310","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c18b861613dc6599cd5c909a7b20103e3398e1e53ae13e90396a9ab1b4b94ae5","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002039","is_excluded":false,"label":"Anorexia","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c275cce0b2b03339db85de5eea3b8f3da241c816edb5ef34940c15647c8543bc","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c41953c126f1c821b6862f0cf28297adc72e684f7c89d3fce3896e96ad593873","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000712","is_excluded":false,"label":"Emotional lability","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ccff4bb6e134e381f1cee0286e61cb0ce3261a612c29cb450ad403ea9f8646fc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007185","is_excluded":false,"label":"Loss of consciousness","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cdc059d1304abb593408b8003123f6aafa2caa88d7531ce48b25a7c871692944","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002329","is_excluded":false,"label":"Drowsiness","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cf50576eac220000fb0f26b984811baba5d68051ec86249464955458a2642fa5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001254","is_excluded":false,"label":"Lethargy","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d0582c82de9e55296e4f0c8a49671edad0a21c8e25526f0aebaa088a1c44f752","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d625eec85dd61f587955a41e0d13db42b5044356d5caca1c8e18f31f8ab7417d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003348","is_excluded":false,"label":"Hyperalaninemia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d9a9f310422c9b1fe61d7f6c2347234017e044f87884c035a6f38be948d778af","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008947","is_excluded":false,"label":"Floppy infant","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dc45607f2a7c404376bc5a4be3eef414cc684a39f996066119193196908027cd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000733","is_excluded":false,"label":"Motor stereotypy","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e016072a19470f5494060afb8924a13281ca8ccd2755ed98fc39be0040b4a666","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e1e24b201f6f816b001d2192048a7db5f5a7c146200c2be2a330a3a3c210c4a0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0010529","is_excluded":false,"label":"Echolalia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e616bca08718db611efcaf0ae5e4aebcd1fa37459d2d3e4801dbe073c14a3db5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e99f4a4a21aa76f2386cc0679c3b533da44d011eb58f07534bdc26d62af9b30b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f4cc4f01f841fc25cbf996ab7a9ec5f42a0b808caf7c018c07d3e4c8c7201560","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0020221","is_excluded":false,"label":"Clonic seizure","onset_id":null,"reference":"PMID:12594532","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f5d51541ab4558128ae9fa0624fda2f6e4f09b52ed1751d08d074b4be11e038a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003217","is_excluded":false,"label":"Hyperglutaminemia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f69f4d064d99c3c511a5a462b2e27ebedeaae51bb22a00f94284ca560b34eb2d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008281","is_excluded":false,"label":"Acute hyperammonemia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f736c8bf586ac00622ab31ffe9f443f1b7c3e20be6f9e0041377abc9a10ee76b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100785","is_excluded":false,"label":"Insomnia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f8f9a84b6c0801e113a1592fd3ffdf69425f1fe44cd741be4063e319c4e5ba6d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fb971c8b949584dad0b64b2da305361fa50c0db1d0c799c0aff0da8c3e41c448","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:927","disease_name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002863","is_excluded":false,"label":"Myelodysplasia","onset_id":null,"reference":"ORPHA:927","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fe0ea13f926e464e62b5af165cd35610fd4ff752106db0dea8ff0c65abb67ef1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:237310","disease_name":"N-acetylglutamate synthase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001289","is_excluded":false,"label":"Confusion","onset_id":null,"reference":"OMIM:237310","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/n-acetylglutamate-synthase-deficiency\">N-acetylglutamate synthase deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency. This condition belongs to a class of genetic diseases called urea cycle disorders because they are caused by problems with a process in the body called the urea cycle. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle breaks down excess nitrogen, which is made when protein is used by the body, to make a compound called urea. Urea is removed from the body in urine.</p><p>The NAGS gene provides instructions for making the enzyme N-acetylglutamate synthase, which is integral to the first step of the urea cycle.</p><p>In people with N-acetylglutamate synthase deficiency, N-acetylglutamate synthase is not available in sufficient quantities, or is not present at all. As a result, the urea cycle is impaired, and nitrogen is not broken down efficiently. The excess nitrogen accumulates in the blood in the form of ammonia. This buildup of ammonia damages tissues in the brain and causes neurological problems and other signs and symptoms of N-acetylglutamate synthase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/n-acetylglutamate-synthase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes N-acetylglutamate synthase deficiency?"},{"bodyHtml":"<p>The signs and symptoms of N-acetylglutamate synthase deficiency often become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have difficulty controlling his or her breathing rate or body temperature. Severely affected babies may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability.</p><p>In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency do not appear until later in life. Some people with this form of the disorder notice that eating high-protein foods, such as meat, affects how they feel, although they may not know why. In many affected adults, illness or other stress can trigger episodes of vomiting, lack of coordination, headaches, confusion, behavioral changes, or coma.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/n-acetylglutamate-synthase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"n-acetylglutamate-synthase-deficiency","sourceDocuments":[{"name":"N-acetylglutamate synthase deficiency","reviewed":"2019-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:40.517455+00:00","label":"Causes","pageSha256":"4b957c8b35ab8c5d68b76f9d3cfb743257861c71535063e32dd467c0bfc77c3b","sourceUrl":"https://medlineplus.gov/genetics/condition/n-acetylglutamate-synthase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/n-acetylglutamate-synthase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"N-acetylglutamate synthase deficiency"},"schemaVersion":1}