The role of methionine in ethylmalonic encephalopathy with petechiae.

@article{McGowan2004TheRO,
  title={The role of methionine in ethylmalonic encephalopathy with petechiae.},
  author={Karen A McGowan and William L. Nyhan and Bruce A Barshop and Robert K. Naviaux and Alice Yu and Richard H. Haas and Jeannette J. Townsend},
  journal={Archives of neurology},
  year={2004},
  volume={61 4},
  pages={570-4}
}
BACKGROUND Among patients with ethylmalonic aciduria, a subgroup with encephalopathy, petechial skin lesions, and often death in infancy is distinct from those with short-chain acyl-coenzyme A dehydrogenase deficiency or multiple acyl-coenzyme A dehydrogenase deficiency. The nature of the molecular defect in this subgroup is unknown, and the source of the ethylmalonic acid has been unclear. OBJECTIVE To determine whether the administration of candidate amino acids increased the excretion of… CONTINUE READING
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2 Excerpts

The ethylmalonic acid syndrome is associated with deranged sulfur amino acid metabolism leading to urinary excretion of thiosulfate and sulfothiocysteine

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