Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0342763 (
Glycerol intolerance
)
1
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Fructose-1,6-diphosphatase (FDPase) deficiency is characterized by episodes of lactic acidemia, hypoglycemia, and
ketonuria
. Liver biopsy and subsequent enzyme analysis most reliably make the diagnosis. Review of the literature reveals 85 cases.
Glycerol intolerance
syndrome (GIS) is less well defined. There are only a handful of cases reported. We describe a patient with FDPase deficiency and significant glyceroluria and propose that GIS may be caused by partial deficiency of FDPase.
...
PMID:Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS. 1087 Aug 52
