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Fructose-1,6-bisphosphatase deficiency
rareFructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
- Identifiers
- MONDO:0009251 OMIM:229700Orphanet:348
- Causal genes
- FBP1
- Part of
- Disorder of gluconeogenesis
- Also known as
- baker-Winegrad disease · FBP1D · fructose 1,6 diphosphatase deficiency · fructose-1,6-diphosphatase deficiency
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