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Gamma-amino butyric acid metabolism disorder

MONDO:0000698

An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.

1 clinical trial for this condition and its sub-types, 0 tagged with Gamma-amino butyric acid metabolism disorder itself.

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Part of

↑ Inborn disorder of amino acid metabolism (159) ↑ Disorder of organic acid metabolism (154)

Sub-types of Gamma-amino butyric acid metabolism disorder

  • Succinic semialdehyde dehydrogenase deficiency 1 trial
  • GABA aminotransaminase deficiency 0 trials
  • Homocarnosinosis 0 trials
    1 sub-type
    • Carnosinemia 0 trials
Including sub-types (1) Tagged with Gamma-amino butyric acid metabolism disorder (0)
Trials to join now! 1
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  • Rare brain disorder study seeks clues to disease progression

    Knowledge-focused Recruiting now

    This study tracks up to 55 people with SSADH deficiency, a rare genetic disorder that affects brain function. Researchers will measure symptoms, brain activity, and chemical levels in the body over time to see how the disease changes with age. The goal is to find markers that pre…

    Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:10 UTC

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