Article
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn.
BMC pediatrics - 13 Oct 2020
Lin Yiming, Lin Weihua, Chen Yanru, Lin Chunmei, Zheng Zhenzhu, Zhuang Jianlong, Fu Qingliu
Abstract excerpt
BACKGROUND: Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the main causes of inherited neonatal cholestasis. Both PCD and NICCD are included in the current expanded newborn screening (NBS) targets....
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