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Human Disease

fructose-1,6-bisphosphatase deficiency

Term ID
DOID:5204
Synonyms
  • fructose 1 phosphate aldolase deficiency
  • fructose-1,6-diphosphatase deficiency
Definition
A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. (2)
References
Ontology
Human Disease   ( DOID:5204 )
Relationships
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Genes Involved
Zebrafish Models
Citations