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

Fructose-1,6-diphosphatase (FDPase) deficiency is characterized by episodes of lactic acidemia, hypoglycemia, and ketonuria. Liver biopsy and subseque nt enzyme analysis most reliably make the diagnosis, Review of the Literatu re reveals 85 cases. Glycerol intolerance syndrome (GIS) is Less well defin ed. 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. (C) 2000 Academic Press.