| Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS. | |
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MedLine Citation:
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PMID: 10870852 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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M E Beatty; Y H Zhang; E R McCabe; R D Steiner |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 69 ISSN: 1096-7192 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2000 Apr |
Date Detail:
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Created Date: 2000-08-07 Completed Date: 2000-08-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 338-40 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health Sciences University, Portland 97201, USA. dahlbeat@nm.net |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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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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