Document Detail


Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS.
MedLine Citation:
PMID:  10870852     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M E Beatty; Y H Zhang; E R McCabe; R D Steiner
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  69     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2000 Apr 
Date Detail:
Created Date:  2000-08-07     Completed Date:  2000-08-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  338-40     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health Sciences University, Portland 97201, USA. dahlbeat@nm.net
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MeSH Terms
Descriptor/Qualifier:
Diagnosis, Differential
Female
Fructose-1,6-Diphosphatase Deficiency / metabolism,  pathology*
Fructose-Bisphosphatase / metabolism
Glycerol / metabolism*
Humans
Infant
Liver / enzymology
Metabolism, Inborn Errors / enzymology,  etiology,  pathology*
Chemical
Reg. No./Substance:
56-81-5/Glycerol; EC 3.1.3.11/Fructose-Bisphosphatase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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