Transient infantile hypertriglyceridemia (HTGTI) is a rare hypertriglyceridemia in infancy caused by mutations in GPD1 encoding glycerol-3-phosphate dehydrogenase. GPD1 catalyzes the reversible redox reaction of dihydroxyacetone phosphate and NADH to glycerol-3-phosphate and NAD+. The hypertriglyceridemia is associated with hepatomegaly and moderately elevated transaminases that may decrease later in life, persistent fatty liver, and the development of hepatic fibrosis.
Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R
タイトル
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
