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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>GABA-transaminase deficiency is caused by mutations in the ABAT gene, which provides instructions for making the GABA-transaminase enzyme. This enzyme helps break down a brain chemical (neurotransmitter) called GABA when it is not needed. GABA normally helps slow down (inhibit) brain cell activity when necessary, to prevent the brain from being overloaded with too many signals. For this reason, GABA is called an inhibitory neurotransmitter.</p><p>Mutations in the ABAT gene lead to a shortage (deficiency) of functional GABA-transaminase enzyme. As a result, GABA is not properly broken down, so this neurotransmitter and another molecule called beta-alanine accumulate abnormally in brain cells. This accumulation alters the balance between the brain&#x27;s neurotransmitters, leading to the neurological problems characteristic of GABA-transaminase deficiency. Excess GABA also leads to abnormal release of a protein that is necessary for growth of the body&#x27;s bones and tissues (growth hormone), resulting in the accelerated linear growth that sometimes occurs in this disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/gaba-transaminase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes GABA-transaminase deficiency?"},{"bodyHtml":"<p>Children with GABA-transaminase deficiency have profoundly impaired development. Most do not achieve normal developmental milestones of infancy such as following others&#x27; movement with their eyes or sitting unassisted. Individuals with this disorder usually do not survive past the first 2 years of life, but some live longer into childhood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/gaba-transaminase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"gaba-transaminase-deficiency","sourceDocuments":[{"name":"GABA-transaminase deficiency","reviewed":"2018-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:40.985026+00:00","label":"Causes","pageSha256":"99122aa63610bf6f06625539ec0988c99416da8342718c998fc0881791015a46","sourceUrl":"https://medlineplus.gov/genetics/condition/gaba-transaminase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/gaba-transaminase-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":"GABA-transaminase deficiency"},"schemaVersion":1}