Genotype-phenotype correlation in primary carnitine deficiency.

  title={Genotype-phenotype correlation in primary carnitine deficiency.},
  author={Emily C Rose and Cristina Amat di San Filippo and Uzochi Chimdinma Ndukwe Erlingsson and Orly Ardon and Marzia Pasquali and Nicola Longo},
  journal={Human mutation},
  volume={33 1},
Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. Lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy. Recently, asymptomatic mothers with primary carnitine deficiency were identified by low carnitine levels in their infant by newborn screening. Here, we evaluate mutations in the SLC22A5 gene and carnitine transport in fibroblasts from symptomatic… CONTINUE READING
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