Глутарова ацидемія, тип 3
ORPHA:35706· ICD-10 E72.3· Glutaric acidemia type 3
Визначення(English summary)
A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- All ages