Last update 21 Mar 2024

Acidemia, Isovaleric

Basic Info

Synonyms
Acidemia, isovaleric, ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY, ISOVALERIC ACIDEMIA
+ [23]
Introduction
A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma.

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