GPD1 Deficiency – Underdiagnosed Cause of Liver Disease

Excerpt

To the Editor: 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 [1]. Among 17 patients described so far [1‐5], severe liver disease was found in one patient only [3]. We report infantile hypertriglyceridemia/GPD1 deficiency (OMIM #614480) in nine Roma children and one boy of Palestinian Arab origin. The main symptoms included, early onset moderate to severe hepatomegaly (9 of 10 patients), hepatopathy (AST 63,600–309,600 IU/ml, controls <58,200; ALT 35,500–151,200 IU/ml, controls <51,200; GGT 57,600-1,416,000 IU/ml, controls <62,400) and hypertriglyceridemia (189–1062 mg/dl, controls 44–195). Coagulation tests and extensive serologic and metabolic analyses were normal except for mild repeated hypoglycemia (50.5–55.9 mg/dl, controls 70.2–100.9) in two infants. The children are now between 2 and 17 y old, and they are of low-normal growth. …