Deficiency of acetyl-CoA acetyltransferase
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Sign InDescription
Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone.
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
171