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Glutaryl-CoA dehydrogenase deficiency

MONDO:0009281

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

Also known as: GA1, GCDHD, glutaric acidemia type 1, glutaric aciduria type 1, glutaric aciduria, type 1, glutaricaciduria, type I, glutaryl-CoA dehydrogenase deficiency, glutaryl-coenzyme A dehydrogenase deficiency

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Nervous system disorder (231) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Hereditary neurological disease (6) Inborn organic aciduria (5) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2)
Trials to join now! 2 Not yet finished but already full! 1 Completed 1
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  • Newborn screening study aims to catch rare diseases at birth

    Diagnosis Ongoing

    This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

    Sponsor: RTI International • Aim: Diagnosis

    Last updated Jul 03, 2026 00:00 UTC

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