Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.

@article{Minetti1998VerylongchainAA,
  title={Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.},
  author={Carlo Minetti and Barbara Garavaglia and Massimo Bado and Federica Invernizzi and Claudio Bruno and Marco Rimoldi and Roser Pons and Franco Taroni and Giovanni Cordone},
  journal={Neuromuscular disorders : NMD},
  year={1998},
  volume={8 1},
  pages={3-6}
}
A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen.