Fructose-1,6-bisphosphatase deficiency

Orpha code: 348OMIM code: 229700

Definition

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.

Disease data
Classification

Disease

Synonyms
FBPase deficiency
Fructose-1,6-diphosphatase deficiency
ORPHA code
348
OMIM code
229700
ICD10 code
E74.1
ICD11 code
5C51.5Y

No additional description.

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