Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

@inproceedings{Fitzsimons2018ClinicalBA,
  title={Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency},
  author={Patricia E Fitzsimons and Charlotte L. Alston and Penelope E. Bonnen and Joanne Hughes and Ellen B Crushell and Michael T. Geraghty and Martine T{\'e}treault and Peter O'Reilly and Eilish Twomey and Yusra Sheikh and Richard A. Walsh and H. R. Waterham and Sacha Ferdinandusse and Ronald J. A. Wanders and Robert W Taylor and James Jonathon Pitt and Philip D. Mayne},
  booktitle={American journal of medical genetics. Part A},
  year={2018}
}
Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile-onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). Characteristic abnormal biochemical findings are secondary to dysfunction of valine metabolism. We describe four patients from two consanguineous families (one… CONTINUE READING
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