ArticleJournal of inherited metabolic disease2017
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Article in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors.Neurogenetics · 2026Pooled it
- Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.Molecular genetics & genomic medicine · 2025Review
- Article
- The Physiological and Pathological Role of Acyl-CoA Oxidation.International journal of molecular sciences · 2023Review
- Loss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function.The FEBS journal · 2023Article
- Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.Orphanet journal of rare diseases · 2022Article
- Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.International journal of environmental research and public health · 2022Review
- SOS2 Comes to the Fore: Differential Functionalities in Physiology and Pathology.International journal of molecular sciences · 2021Review
- Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.Annals of clinical and translational neurology · 2021Article
- Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.BMC medical genetics · 2020Article
- The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.Annals of clinical and translational neurology · 2020Article
- An incidental finding in newborn screening leading to the diagnosis of a patient withMolecular genetics and metabolism reports · 2020Article
- Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature.BMC pediatrics · 2020Review
- Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.JIMD reports · 2019Article
- Seave: a comprehensive web platform for storing and interrogating human genomic variation.Bioinformatics (Oxford, England) · 2019Article
- Review
- Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.European journal of human genetics : EJHG · 2018Article
- Biomarkers for Detecting Mitochondrial Disorders.Journal of clinical medicine · 2018Review
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Authors and funding
12 authors at 9 institutions in 3 countries.
Funding
Abstract
Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine.
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