20 Years After Discovery of the Causative Gene of Primary Carnitine Deficiency, How Much More Have We Known About the Disease?

摘要

We review the development of molecular diagnosis of primary carnitine deficiency , also known as carnitine uptake defect. Knowledge of mutations of the causative gene, SLC22A5 (previously called OCTN2), greatly enhanced our understanding of the physiology, pathogenesis and therapy. DNA diagnosis and newborn screening are very useful in early diagnosis and early therapy which leads to favourable prognosis. With the latest incidence data, primary carnitine deficiency turns out as one of the most common inherited metabolic disease in Chinese (the incidence as high as 1 in 10,000) and up to a thousand patients have been diagnosed and treated in the Greater China region during the last 20 years.