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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan.</p><p>Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme that cannot function. A shortage (deficiency) of this enzyme allows lysine, hydroxylysine and tryptophan and their intermediate breakdown products to build up to abnormal levels, especially at times when the body is under stress.</p><p>The intermediate breakdown products resulting from incomplete processing of lysine, hydroxylysine, and tryptophan can damage the brain, particularly the basal ganglia, causing the signs and symptoms of glutaric acidemia type I.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Glutaric acidemia type I?"},{"bodyHtml":"<p>People with glutaric acidemia type I have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur.</p><p>The severity of glutaric acidemia type I varies widely; some individuals are only mildly affected, while others have severe problems. In most cases, signs and symptoms first occur in infancy or early childhood, but in a small number of affected individuals, the disorder first becomes apparent in adolescence or adulthood.</p><p>Some babies with glutaric acidemia type I are born with unusually large heads (macrocephaly). Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity, or decreased muscle tone. Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse. Strict dietary control may help limit progression of the neurological damage. Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms, with only partial recovery.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"glutaric-acidemia-type-i","sourceDocuments":[{"name":"Glutaric acidemia type I","reviewed":"2007-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:49.085639+00:00","label":"Causes","pageSha256":"25548bce88cd525b049fd66a4853fb5a88e989f407bb9568a6130ee6c2d63a0f","sourceUrl":"https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i"}],"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":"Glutaric acidemia type I"},"schemaVersion":1}