glutaric acidemia type 3

info · Genetic

A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1.

Signs and symptoms

Glutaric aciduria
Diarrhea
Vomiting
Failure to thrive
Hypertension
Reduced peroxisomal glutaryl-CoA oxidase activity
Hyperthyroidism
Goiter

Also known as: GA III; GA3; glutaric aciduria 3; glutaric aciduria III; glutaric aciduria type 3