Orphanet: Fructose 1,6 bisphosphatase deficiency

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Fructose-1,6-bisphosphatase deficiency

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • FBPase deficiency
    • Fructose-1,6-diphosphatase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E74.1
  • OMIM: 229700
  • UMLS: C0016756
  • MeSH: -
  • GARD: 2400
  • MedDRA: -

Detailed information


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