Article
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
American journal of medical genetics. Part A - 1 Jan 2021
Simon Mariella T, Eftekharian Shaya S, Ferdinandusse Sacha, Tang Sha, Naseri Take, Reupena Muagututi'a Sefuiva, McGarvey Stephen T, Minster Ryan L, Weeks Daniel E, Nguyen Daniel D, Lee Sansan, Ellsworth Katarzyna A, Vaz Frédéric M, Dimmock David, Pitt James, Abdenur Jose E
Abstract excerpt
Mutations in the short-chain enoyl-CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present with developmental delay, regression, dystonia, feeding difficulties, and abnormal MRI with bilateral basal ganglia involvement. We present clinical, biochemical, molecular, and functional data for four affected patients from two unrelated families of Samoan...
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