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

• GARD:2400
• ICD10CM:E74.19
• MESH:D015319
• MIM:229700
• NCI:C128119
• SNOMEDCT_US_2023_03_01:28183005
• UMLS_CUI:C0016756

Ontology

Human Disease   ( DOID:5204 )