3-гідрокси-3-метилглутарова ацидурія
ORPHA:20· ICD-10 E71.1· 3-hydroxy-3-methylglutaric aciduria
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- All ages