Visualize Submit Comment
Metadata
ID DOID:5204
Name fructose-1,6-bisphosphatase 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.
http://en.wikipedia.org/wiki/Fructose-1\,6-bisphosphatase_deficiency, http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency
Xrefs

GARD:2400

ICD10CM:E74.19

MESH:D015319

NCI:C128119

OMIM:229700

SNOMEDCT_US_2023_03_01:28183005

UMLS_CUI:C0016756

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

fructose 1 phosphate aldolase deficiency [EXACT]

fructose-1,6-diphosphatase deficiency [EXACT]

Parent Relationships

is_a carbohydrate metabolic disorder

Add an item to the term tracker