A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency

Indian Pediatr. 2016 Mar;53(3):262. doi: 10.1007/s13312-016-0833-0.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Acyl-CoA Dehydrogenase, Long-Chain / genetics
  • Congenital Bone Marrow Failure Syndromes
  • Female
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors* / diagnosis
  • Lipid Metabolism, Inborn Errors* / genetics
  • Mitochondrial Diseases* / diagnosis
  • Mitochondrial Diseases* / genetics
  • Muscular Diseases* / diagnosis
  • Muscular Diseases* / genetics
  • Mutation, Missense / genetics*

Substances

  • Acyl-CoA Dehydrogenase, Long-Chain

Supplementary concepts

  • VLCAD deficiency