Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.

@article{Pollard2010DiagnosisTA,
  title={Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.},
  author={Laura Malinda Pollard and N. Rankin Williams and Lesby M Espinoza and Tim C. Wood and Elaine Spector and Richard J Schroer and Kenton Roy Holden},
  journal={Journal of child neurology},
  year={2010},
  volume={25 8},
  pages={954-60}
}
We report 4 children with late-onset (type III) multiple acyl-CoA dehydrogenase deficiency, also known as glutaric aciduria type II, which is an autosomal recessive disorder of fatty acid and amino acid metabolism. The underlying deficiency is in the electron transfer flavoprotein or electron flavoprotein dehydrogenase. Clinical presentations include fatal acute neonatal metabolic encephalopathies with/without organ system anomalies (types I and II) and late-onset acute metabolic crises… CONTINUE READING