Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

doi:10.1002/jimd.12288

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Journal of inherited metabolic disease - 1 Mar 2021

Marti-Sanchez Laura, Baide-Mairena Heidy, Marcé-Grau Anna, Pons Roser, Skouma Anastasia, López-Laso Eduardo, Sigatullina Maria, Rizzo Cristiano, Semeraro Michela, Martinelli Diego, Carrozzo Rosalba, Dionisi-Vici Carlo, González-Gutiérrez-Solana Luis, Correa-Vela Marta, Ortigoza-Escobar Juan Dario, Sánchez-Montañez Ángel, Vazquez Élida, Delgado Ignacio, Aguilera-Albesa Sergio, Yoldi María Eugenia, Ribes Antonia, Tort Frederic, Pollini Luca, Galosi Serena, Leuzzi Vincenzo, Tolve Manuela, Pérez-Gay Laura, Aldamiz-Echevarría Luis, Del Toro Mireia, Arranz Antonio, Roelens Filip, Urreizti Roser, Artuch Rafael, Macaya Alfons, Pérez-Dueñas Belén

Abstract excerpt

The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and HIBCH deficiency. Fourteen additional patients were recruited through collaborations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonia

Share to Internationality

Share to Leigh Disease

Share to Metabolic Networks and Pathways

Share to Survival Rate

Share to Thiolester Hydrolases

Share to Valine

Source

Open in PubMed

Identifiers

PMID: 32677093
DOI: 10.1002/jimd.12288

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.PMID 32677093Read ↗

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.Semantic proximity Read ↗

Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature.Semantic proximity Read ↗

ECHS1 deficiency and its biochemical and clinical phenotype.Semantic proximity Read ↗

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.Semantic proximity Read ↗

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.Semantic proximity Read ↗

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.Semantic proximity Read ↗

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

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.Semantic proximity Read ↗

Clinical and biochemical characterization of four patients with mutations in ECHS1.Semantic proximity Read ↗

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.Semantic proximity Read ↗

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.Semantic proximity Read ↗

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.