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Glutaric Acidemia Type 1 Overview by NICOLAS RINCON NIETO is a document available to read on EtoBox.
Glutaric acidemia type 1 is an inherited metabolic disorder caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. This leads to the accumulation of toxic metabolites glutaric acid and 3-hydroxyglutaric acid. Patients typically present with macrocephaly and dystonia triggered by fever in infancy. The disorder is diagnosed through newborn screening detecting elevated glutaryl carnitine or urine organic acid analysis. Treatment involves a low-protein diet, carnitine supplementation, and managing inf
- Author
- NICOLAS RINCON NIETO
- Language
- EN