About Glutaric Aciduria Type 1
Glutaric aciduria type 1 is an organic acidemia caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase, an enzyme involved in lysine and tryptophan catabolism. The hallmark feature is susceptibility to acute striatal injury during febrile illness in the first 6 years of life, causing dystonia and dyskinesia that can be severely disabling. Many patients are macrocephalic at birth, and some are identified through newborn screening before the first crisis.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Glutaric Aciduria Type 1 trials.
Crisis prevention through emergency protocols during illness is standard care — trial sites must accommodate emergency management plans
Urinary glutarylcarnitine and plasma C5DC acylcarnitine are the key eligibility biomarkers
Post-crisis patients with established dystonia are a distinct cohort from pre-crisis or pre-symptomatic patients
Newborn screening programs vary by country — documentation of screening status and variant classification is required
Patient Resources
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