Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives

@inproceedings{SolerAlfonso2016ScreeningFM,
  title={Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives},
  author={Claudia Soler-Alfonso and Michael Jennings Bennett and Can Fiçicioğlu},
  year={2016}
}
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder associated with fatty acid oxidation. The disorder is characterized by inability to generate sufficient energy from fatty acid metabolism during periods of catabolic stress caused by intercurrent illness or prolonged fasting. The metabolic consequences are severe and include hypoketotic hypoglycemia leading to a Reye-like hepatic encephalopathy syndrome and sudden death. If individuals are detected before a life… CONTINUE READING

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