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.
"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":4,"sourceGroups":{"omim":0,"orphanet":3,"published":1}},"features":[{"hpoId":"HP:0011013","label":"Abnormal circulating carbohydrate concentration","primary":false},{"hpoId":"HP:0011021","label":"Abnormal circulating enzyme concentration","primary":false},{"hpoId":"HP:0031979","label":"Abnormal urine carbohydrate level","primary":false},{"hpoId":"HP:0025742","label":"Elevated urine L-xylulose level","primary":false}],"ledeHtml":"Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.","mondoId":"MONDO:0009846","records":[{"frequencyKind":"range","key":"30c977c4f93e14cc307d06af241f7d31baaba42ec8c653a7f461a8a5e0f35836","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:2843","disease_name":"Pentosuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0031979","is_excluded":false,"label":"Abnormal urine carbohydrate level","onset_id":null,"reference":"ORPHA:2843","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"47b50a8461f5f2fcbe4f0edde15d85602e7e871898f6b223fc267097978a413a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:2843","disease_name":"Pentosuria","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011013","is_excluded":false,"label":"Abnormal circulating carbohydrate concentration","onset_id":null,"reference":"ORPHA:2843","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5c58ca7628a962cb8e51b612a18080b080f8d963a47ac70e8a74f021267a3e5b","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:2843","disease_name":"Pentosuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011021","is_excluded":false,"label":"Abnormal circulating enzyme concentration","onset_id":null,"reference":"ORPHA:2843","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"daa03f04d1f50afc0468939dd293ed46d3eb533a6547707b99dd7ceed63b96fd","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:260800","disease_name":"Pentosuria","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0025742","is_excluded":false,"label":"Elevated urine L-xylulose level","onset_id":null,"reference":"PMID:22042873","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl and L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xylitol. This reaction is one step in a process by which the body can use sugars for energy.
DCXR gene mutations lead to the production of altered DCXR proteins that are quickly broken down. Without this protein, L-xylulose is not converted to xylitol, and the excess sugar is released in the urine.
While essential pentosuria is caused by genetic mutations, some people develop a non-inherited form of pentosuria if they eat excessive amounts of fruits high in L-xylulose or another pentose called L-arabinose. This form of the condition, which disappears if the diet is changed, is referred to as alimentary pentosuria. Studies show that some drugs can also cause a form of temporary pentosuria called drug-induced pentosuria. These non-inherited forms of the condition also do not cause any health problems.
","key":"forms","title":"What causes Essential pentosuria?"},{"bodyHtml":"Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"essential-pentosuria","sourceDocuments":[{"name":"Essential pentosuria","reviewed":"2015-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:15.257754+00:00","label":"Causes","pageSha256":"96b184fbf9ce98c9c90a7763b6de05cf5d48020fe1aef1b1c032dd13633c8961","sourceUrl":"https://medlineplus.gov/genetics/condition/essential-pentosuria/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/essential-pentosuria"}],"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":"Essential pentosuria"},"schemaVersion":1}