Publication at First Faculty of Medicine |
2021
Abstract
Deficiency of cytosolic glycerol-3-phosphate dehydrogenase (GPD1, EC 1.1.1.8) manifests in infancy with hepatomegaly, moderate to severe hypertriglyceridemia and cholestasis resulting in steatosis and fibrosis but the course of the disease seems to be non-progressive and relatively benign. Among 17 patients described so far, severe liver disease was found in one patient only.
We report infantile hypertriglyceridemia/GPD1 deficiency (OMIM #614480) in nine Roma children and one boy of Palestinian Arab origin.