Inborn errors of cytoplasmic triglyceride metabolism.
Montréal, Canada. In J Inherit Metab Dis, 2015
Two inborn errors of glycerol metabolism are known: glycerol kinase (GK, causing pseudohypertriglyceridemia) and glycerol-3-phosphate dehydrogenase (GPD1, childhood hepatic steatosis).
Genetic and clinical aspects of Brugada syndrome: an update.
Parma, Italy. In Adv Clin Chem, 2011
Accordingly, eight types of BS (from BS1 to BS8) have already been described, involving mutations in SCN5A, GPD1-L, CACNA1c, CACNB2b, SCN1B, KCNE3, SCN3B, and HCN4 genes.