Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:348

Fructose-1,6-bisphosphatase deficiency

Also called FBPase deficiency, Fructose-1,6-diphosphatase deficiency

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
All ages
Estimated prevalence
1-9 / 1 000 000 (Italy)
Rarity class
1-9 / 1 000 000

ORPHA:348 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Metabolic acidosis
  • Hypoglycemia
  • Lactic acidosis
  • Abnormal enzyme/coenzyme activity
  • Vomiting
  • Diarrhea