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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Arginase deficiency is caused by variants (also called mutations) in the ARG1 gene. This gene provides instructions for making an enzyme called arginase.</p><p>Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.</p><p>The arginase enzyme facilitates the final step of the urea cycle, which produces urea by removing nitrogen from arginine. In people with arginase deficiency, arginase is damaged or missing, and arginine is not broken down properly. As a result, urea cannot be produced normally, and excess nitrogen accumulates in the blood in the form of ammonia. The accumulation of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/arginase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Arginase deficiency?"},{"bodyHtml":"<p>Arginase deficiency usually becomes evident by about the age of 3. It most often appears as stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity). Other symptoms may include slower than normal growth, developmental delays and eventual loss of developmental milestones, intellectual disabilities, seizures, tremors, and difficulty with balance and coordination (ataxia). Occasionally, high-protein meals or stress caused by illness or periods without food (fasting) may cause ammonia to accumulate more quickly in the blood. This rapid increase in ammonia may lead to episodes of irritability, refusal to eat, and vomiting.</p><p>In some affected individuals, the signs and symptoms of arginase deficiency may be less severe and may not appear until later in life.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/arginase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"arginase-deficiency","sourceDocuments":[{"name":"Arginase deficiency","reviewed":"2024-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:27.382537+00:00","label":"Causes","pageSha256":"709699e23b4c3da58b29db999d3448d1eb759212971e4b177eaae163557973d4","sourceUrl":"https://medlineplus.gov/genetics/condition/arginase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/arginase-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":"Arginase deficiency"},"schemaVersion":1}