fructose-1,6-bisphosphatase deficiency (DOID:5204)
Alliance: disease page
Synonyms: fructose 1 phosphate aldolase deficiency; fructose-1,6-diphosphatase deficiency
Alt IDs: OMIM:229700, ICD10CM:E74.19, MESH:D015319, NCI:C128119, UMLS_CUI:C0016756
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.