Glycerol-3-Phosphate Dehydrogenase deficiency

Posted by & filed under Exome sequencing, New IEM.

Basel-Vanagaite L. et al. Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1. Am J Hum Genet. 2012 Jan 4

In several individuals with childhood hypertriglyceridemia followed by liver fibrosis, this group identified mutations in GDP1, encoding Glycerol-3-Phosphate Dehydrogenase 1. The enzyme GPD1 reversibly converts glycerol-3-phosphate (G3P) in dihydroxyacetone phosphate (DHAP). The accumulation of G3P in this disease might lead to increased G3P to triglyceride conversion. Alternatively, at a later age, the accumulation of DHAP might be toxic for the liver. More functional studies will be required to understand the precise pathophysiology of this disease.

Posted by Philippe Campeau, MD

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