JOURNAL ARTICLE

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

M E Beatty, Y H Zhang, E R McCabe, R D Steiner
Molecular Genetics and Metabolism 2000, 69 (4): 338-40
10870852
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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