title: Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
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.
authors: Department of Pediatrics, PGIMER and Dr. RML Hospital, New Delhi, India. shivanipaeds@gmail.com.
authors: Shivani
authors: S
authors: Deswal
authors: Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.
authors: Sunita
authors: S
authors: Bijarnia-Mahay
authors: Department of Pediatrics, PGIMER and Dr. RML Hospital, New Delhi, India.
authors: Vinamr
authors: V
authors: Manocha
authors: Department of Pediatrics, The National Hospital Organization Kure Medical Center, Aoyama-Cho, Kure City, Hiroshima, Japan.
authors: Keiichi
authors: K
authors: Hara
authors: Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
authors: Yosuke
authors: Y
authors: Shigematsu
authors: Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.
authors: Renu
authors: R
authors: Saxena
authors: Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.
authors: Ishwar C
authors: IC
authors: Verma
mesh_terms: D009202:Cardiomyopathies / Q000150:complications / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D002331:Carnitine / Q000172:deficiency* / Q000235:genetics / Q000627:therapeutic use*; D006529:Hepatomegaly / Q000209:etiology*; D006801:Humans; D022124:Hyperammonemia / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics; D007223:Infant; D008297:Male; D009135:Muscular Diseases / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics
chemical_list: D002331:Carnitine
keywords: Cardiomyopathy; Carnitine; Hepatomegaly; Novel; SLC22A5