Time filter

Source Type

Deswal S.,Pgimer And Dr Rml Hospital | Bijarnia-Mahay S.,Sir Ganga Ram Hospital | Manocha V.,Pgimer And Dr Rml Hospital | Hara K.,The National Hospital Organization Kure Medical Center | And 3 more authors.
Indian Journal of Pediatrics | Year: 2016

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. © 2016 Dr. K C Chaudhuri Foundation


PubMed | University of Fukui, Pgimer And Dr Rml Hospital, Sir Ganga Ram Hospital and The National Hospital Organization Kure Medical Center
Type: | Journal: Indian journal of pediatrics | Year: 2016

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.

Loading The National Hospital Organization Kure Medical Center collaborators
Loading The National Hospital Organization Kure Medical Center collaborators