Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.

Muntean, Carmen; Tripon, Florin; BogliÈ, Alina; Banescu, Claudia

Muntean, Carmen; Tripon, Florin; BogliÈ, Alina; Banescu, Claudia.

Affiliation

Muntean C; Department of Pediatrics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu MureÈ, 540142 Târgu MureÈ, Romania.
Tripon F; Pediatric Clinic, Emergency Clinical County Hospital Târgu MureÈ, 540136 Târgu MureÈ, Romania.
BogliÈ A; Laboratory of Medical Genetics, Emergency Clinical County Hospital Târgu MureÈ, 540136 Târgu MureÈ, Romania.
Banescu C; Genetics Laboratory, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu MureÈ, 540142 Târgu MureÈ, Romania.

Int J Environ Res Public Health ; 19(4)2022 02 13.

Article in En | MEDLINE | ID: mdl-35206276

Subject(s)

Enoyl-CoA Hydratase; Leigh Disease; Child; Enoyl-CoA Hydratase/genetics; Female; Humans; Leigh Disease/diagnosis; Leigh Disease/genetics; Mutation; Valine

Key words

ECHS1 gene; Leigh syndrome; diet; genotype-phenotype correlations; neurodevelopment disorder; valine

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Enoyl-CoA Hydratase Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Child / Female / Humans Language: En Journal: Int J Environ Res Public Health Year: 2022 Type: Article Affiliation country: Romania

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