Table of Contents

HK J Paediatr (New Series)
Vol 25. No. 1, 2020

HK J Paediatr (New Series) 2020;25:23-29

Review Article

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

NLS Tang, J Hui


We review the development of molecular diagnosis of primary carnitine deficiency 卡尼丁缺乏症, 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.

Keyword : Carnitine; Carnitine uptake defect; Fatty acid oxidation defects; Primary carnitine deficiency; SLC22A5

Abstract in Chinese


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