Fructose-1,6-diphosphatase Deficiency and Glyceroluria: One Possible Etiology for GIS

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 defin...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2000-04, Vol.69 (4), p.338-340
Main Authors: Beatty, Mark Edward, Zhang, Y.-H., McCabe, E.R.B., Steiner, Robert D.
Format: Article
Language:English
Subjects:
Diagnosis, Differential
Female
fructose-1,6-diphosphatase deficiency
Fructose-1,6-Diphosphatase Deficiency - metabolism
Fructose-1,6-Diphosphatase Deficiency - pathology
Fructose-Bisphosphatase - metabolism
Glycerol - metabolism
glycerol intolerance syndrome
glyceroluria
Humans
inborn errors of metabolism
Infant
Liver - enzymology
Metabolism, Inborn Errors - enzymology
Metabolism, Inborn Errors - etiology
Metabolism, Inborn Errors - pathology
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Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1006/mgme.2000.2983