Ontology highlight
ABSTRACT:
SUBMITTER: Mutlu-Albayrak H
PROVIDER: S-EPMC4436458 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Mutlu-Albayrak Hatice H Bene Judit J Oflaz Mehmet Burhan MB Tanyalçın Tijen T Çaksen Hüseyin H Melegh Bela B
Case reports in genetics 20150505
Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant de ...[more]