3-hydroxy-3-methylglutaric aciduria
ORPHA:20· ICD-10 E71.1
Definition
A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages