Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report-Reference-Cited by-同舟云学术

Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report

Published:2020-12 Issue: Volume:25 Page:100672
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Uesugi Madoka,Mori Jun,Fukuhara Shota,Fujii Noriko,Omae Tadaki,Sasai Hideo,Ichimoto Keiko,Murayama Kei,Osamura Toshio,Hosoi Hajime

Funder

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference12 articles.

1. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism;Peters;Brain.,2014

2. Ketone body metabolism and its defects;Fukao;J. Inherit. Metab. Dis.,2014

3. Beta-ketothiolase deficiency: a case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency;Alijanpour;JIMD Rep.,2019

4. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement;Haack;Ann Clin Transl Neurol.,2015

5. Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion;Yamada;J. Med. Genet.,2015

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1. Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency;2024-06-13

2. Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity;Metabolic Brain Disease;2024-02-16

3. The Physiological and Pathological Role of Acyl-CoA Oxidation;International Journal of Molecular Sciences;2023-10-03

4. 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;2022-09-05

5. ECHS1 deficiency and its biochemical and clinical phenotype;American Journal of Medical Genetics Part A;2022-07-20