Glutaric acidemia type 3
Glutaric acidemia type 3
Definition
Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.
Also known as glutaric acidemia type 3, glutaric aciduria (disease) caused by mutation in SUGCT, glutaric aciduria type 3, glutaryl-CoA oxidase deficiency, SUGCT glutaric aciduria (disease) — per MONDO