Primary Carnitine Deficiency – A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly

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• 作者：Shivani Deswal ; Sunita Bijarnia-Mahay ; Vinamr Manocha…
• 关键词：Carnitine ; SLC22A5 ; Cardiomyopathy ; Hepatomegaly ; Novel
• 刊名：The Indian Journal of Pediatrics
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：84
• 期：1
• 页码：83-85
• 全文大小：
• 刊物主题：Pediatrics; Gynecology;
• 出版者：Springer India
• ISSN：0973-7693
• 卷排序：84

文摘

Systemic primary carnitine deficiency (CDSP) is a rare autosomal recessive disorder caused by a defect in plasma membrane uptake of carnitine due to SLC22A5 gene mutations. A nine-mo-old boy presented with hypertrophic cardiomyopathy, massive hepatomegaly and jaundice. Metabolic testing revealed very low free carnitine levels. Genetic analysis using Sanger sequencing method revealed compound heterozygous mutations in SLC22A5 gene, c. 1354 G > A (p. Glu452Lys, previously reported) and c.231_234del (novel frame-shift). Oral carnitine supplementation resulted in improved clinical outcome with ejection fraction to 75 % and normalization of liver size and enzymes after 3 mo.