Article
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
Molecular genetics and metabolism - 1 May 2010
Lee Ni-Chung, Tang Nelson Leung-Sang, Chien Yin-Hsiu, Chen Chun-An, Lin Sho-Juan, Chiu Pao-Chin, Huang Ai-Chu, Hwu Wuh-Liang
Abstract excerpt
Carnitine uptake defect (CUD) is an autosomal recessive fatty acid oxidation defect caused by a deficiency of the high-affinity carnitine transporter OCTN2. CUD patients may present with hypoketotic hypoglycemia, hepatic encephalopathy or dilated cardiomyopathy. Tandem mass spectrometry screening of newborns can detect CUD, although transplacental transport of free carnitine from the mother may cause a higher...
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