The leading symptoms of<unk>  are coagulopathy, thrombocytopenia, hepatosplenomegaly, hepatic fibrosis and dysmorphic features. The dysmorphic features can include antimongoloid slant, low-set ears, and cutis laxa. Those affected by this disease have abnormal polyol concentrations in urine and other bodily fluids, this can determined by an abnormal liver function tests. With<unk>  there is a buildup of sedoheptulose 7-phosphate (it is increased six to sevenfold in the blood compared to normal), which decreases the change of ribose 5-phosphate into glucose 6-phosphate. This reaction is important in releasing NADPH. Reduced glutathione is essential for regulation of Mitochondrial membrane permeability and depends on the NADPH generated from the pentose phosphate pathway to be regenerated from oxidized glutathione.<unk>  plays an important role in male fertility; this is because it maintains the mitochondrial transmembrane potential and its role in the release NADPH. Therefore,<unk>  decreases the mobility of spermatozoa and lowers male fertility. Liver cirrhosis is associated with increased apoptosis of hepatocytes and<unk>  is a regulator in apoptosis signaling processing – therefore<unk>  can result in liver cirrhosis.
Transaldolase deficiency
Enolase deficiency
Aldolase A deficiency
Glutaminase deficiency
Pyruvate kinase deficiency
Ornithine aminotransferase deficiency
Malonyl-CoA decarboxylase deficiency
Hexokinase deficiency