Недостаточность карнитин-пальмитоилтрансферазы II, тяжелая младенческая форма

Определение

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.