Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS.

Abstract

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… (More)

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Cite this paper

@article{Beatty2000Fructose16diphosphataseDA, title={Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS.}, author={M. E. Beatty and Y. H. Zhang and Evonne McCabe and R D Steiner}, journal={Molecular genetics and metabolism}, year={2000}, volume={69 4}, pages={338-40} }