Details of Disease | DrugMAP

General Information of Disease (ID: DISUR1NO)

Disease Name	Fructose-1,6-bisphosphatase deficiency
Synonyms	baker-Winegrad disease; fructose 1,6 diphosphatase deficiency; FBP1D; fructose-1,6-bisphosphatase deficiency; fructose 1 phosphate aldolase deficiency; fructose-1,6-diphosphatase deficiency
Definition	Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
Disease Hierarchy	DISNTY2N: Disorder of gluconeogenesis DISUR1NO: Fructose-1,6-bisphosphatase deficiency
Disease Identifiers	MONDO ID MONDO_0009251 MESH ID D015319 UMLS CUI C0016756 OMIM ID 229700 MedGen ID 42106 Orphanet ID 348 SNOMED CT ID 28183005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBP1	OTQBANEP	Definitive	Autosomal recessive	[1]
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References

1	Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency. Biochem Biophys Res Commun. 1995 May 25;210(3):797-804. doi: 10.1006/bbrc.1995.1729.