Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transient infantile hypertriglyceridemia

Transient infantile hypertriglyceridemia is an autosomal recessive disorder caused by mutations of the GPD1 gene. Apart from hypertriglyceridemia liver involvement is a common feature including hepatomegaly and elevated liver enzymes.

Systematic

Hypertriglyceridemia
APOA5
APOE
Combined lipase deficiency
GPIHBP1
LIPC
LIPE
LPL
Plasma triglyceride level quantitative trait locus
Transient infantile hypertriglyceridemia
GPD1
Update: Sept. 26, 2018