Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

@article{Zhang2014ClinicalFA,
  title={Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.},
  author={Rui-Nan Zhang and Yifan David Li and Wen-juan Qiu and Jun Ye and Lian-shu Han and Hui-wen Zhang and Na Lin and Xue-fan Gu},
  journal={World journal of pediatrics : WJP},
  year={2014},
  volume={10 2},
  pages={119-25}
}
BACKGROUND Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) is an inherited metabolic disease caused by deleterious mutations in the ACADVL gene that encodes very long chain acyl-CoA dehydrogenase (VLCAD), and which can present as cardiomyopathy in neonates, as hypoketotic hypoglycemia in infancy, and as myopathy in late-onset patients. Although many ACADVL mutations have been described, no prevalent mutations in the ACADVL gene have been associated with VLCADD. Herein, we report the… CONTINUE READING
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