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01-01-2017 | Clinical Brief

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

Authors: Shivani Deswal, Sunita Bijarnia-Mahay, Vinamr Manocha, Keiichi Hara, Yosuke Shigematsu, Renu Saxena, Ishwar C. Verma

Published in: Indian Journal of Pediatrics | Issue 1/2017

Abstract

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.

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Title: Primary Carnitine Deficiency – A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly
Authors: Shivani Deswal
Sunita Bijarnia-Mahay
Vinamr Manocha
Keiichi Hara
Yosuke Shigematsu
Renu Saxena
Ishwar C. Verma
Publication date: 01-01-2017
Publisher: Springer India
Published in: Indian Journal of Pediatrics / Issue 1/2017
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-016-2227-7

2024 ASCO Annual Meeting

Springer Medicine

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

Abstract

2024 ASCO Annual Meeting

Springer Medicine

Abstract

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