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

被引：12

作者：

Deswal, Shivani ^{[1
,2
]}

Bijarnia-Mahay, Sunita ^{[3
]}

Manocha, Vinamr ^{[1
,2
]}

Hara, Keiichi ^{[4
]}

Shigematsu, Yosuke ^{[5
]}

Saxena, Renu ^{[3
]}

Verma, Ishwar C. ^{[3
]}

机构：

[1] PGIMER, Dept Pediat, New Delhi, India

[2] Dr RML Hosp, New Delhi, India

[3] Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, India

[4] Natl Hosp Org, Kure Med Ctr, Dept Pediat, Aoyama Cho, Kure, Hiroshima, Japan

[5] Univ Fukui, Fac Med Sci, Dept Pediat, Fukui, Japan

来源：

INDIAN JOURNAL OF PEDIATRICS | 2017年 / 84卷 / 01期

关键词：

Carnitine; SLC22A5; Cardiomyopathy; Hepatomegaly; Novel; FAROE-ISLANDS; OCTN2; GENE; TRANSPORTER; MUTATIONS; DISEASE;

D O I：

10.1007/s12098-016-2227-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.1354G > 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.

引用

页码：83 / 85

页数：3

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