Дефіцит фруктозо-1,6-бісфосфатази
ORPHA:348· ICD-10 E74.1· Fructose-1,6-bisphosphatase deficiency
Визначення(English summary)
Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- All ages