Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.

@article{Tein1991ShortchainLD,
  title={Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.},
  author={I Tein and Darryl C. De Vivo and Daniel Esten Hale and J. T. R. Clarke and H M Zinman and Ron M Laxer and Abraham Shore and Salvatore Dimauro},
  journal={Annals of neurology},
  year={1991},
  volume={30 3},
  pages={415-9}
}
We report on a 16-year-old girl with short-chain L-3-hydroxyacyl-coenzyme A (CoA) dehydrogenase deficiency resulting in juvenile-onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilatative cardiomyopathy. Urinary organic acids showed traces of 3-hydroxy-dodecanedioic acids and small amounts of suberic, sebacic, and adipic acids. There was a marked decrease in L-3-hydroxyacyl-CoA dehydrogenase activity in muscle with acetoacetyl-CoA as substrate (2.48… CONTINUE READING