" /> Glutaric aciduria type 1 - CISMeF





Preferred Label : Glutaric aciduria type 1;

ICD-11 definition : Glutaric acidemia type 1 is an inborn error of lysine and triptophan metabolism due to glutaryl-Coenzyme A (CoA) dehydrogenase deficiency clinically characterized by a acute encephalopathy that results in bilateral striatal damage leading to a severe dystonic dyskinetic movement disorder.;

ICD-11 synonym : Glutaryl-CoA dehydrogenase deficiency; Glutaric acidaemia type 1;

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Glutaric acidemia type 1 is an inborn error of lysine and triptophan metabolism due to glutaryl-Coenzyme A (CoA) dehydrogenase deficiency clinically characterized by a acute encephalopathy that results in bilateral striatal damage leading to a severe dystonic dyskinetic movement disorder.

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03/05/2025


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