| Autor: |
Beatty ME; Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health Sciences University, Portland 97201, USA. dahlbeat@nm.net, Zhang YH, McCabe ER, Steiner RD |
| Jazyk: |
angličtina |
| Zdroj: |
Molecular genetics and metabolism [Mol Genet Metab] 2000 Apr; Vol. 69 (4), pp. 338-40. |
| DOI: |
10.1006/mgme.2000.2983 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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