期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 26, 期 6, 页码 613-615出版社
WILEY
DOI: 10.1023/A:1025968502527
关键词
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A family of Turkish origin with primary systemic carnitine deficiency in the father and his two sons is described. In all three individuals, the same homozygous mutation in the OCTN2 gene (R471H) was present and carnitine uptake in fibroblasts was deficient. Whereas one boy became symptomatic with a Reye-syndrome-like picture of hepatopathy and encephalopathy in infancy, the other affected family members remained asymptomatic up to their current ages of 28 and 5 years, respectively.
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