患有HIBCH和ECHS1缺陷患者的医学营养治疗：低缬氨酸饮食的临床和生化反应。 - Suppr

Suppr

超能文献

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet.

作者信息

Abdenur J E, Sowa M, Simon M, Steenari M, Skaar J, Eftekharian S, Chang R, Ferdinandusse S, Pitt J

机构信息

Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA.

Department of Pediatrics, University of California Irvine, Orange, CA. USA.

出版信息

Mol Genet Metab Rep. 2020 Jul 3;24:100617. doi: 10.1016/j.ymgmr.2020.100617. eCollection 2020 Sep.

DOI:10.1016/j.ymgmr.2020.100617

PMID:32642440

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7334802/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d244/7334802/06ffdb1cd628/gr1.jpg

相似文献

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet.患有HIBCH和ECHS1缺陷患者的医学营养治疗：低缬氨酸饮食的临床和生化反应。

Mol Genet Metab Rep. 2020 Jul 3;24:100617. doi: 10.1016/j.ymgmr.2020.100617. eCollection 2020 Sep.

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.ECHS1 突变导致 Leigh 病：一种影响缬氨酸代谢的新的先天性代谢错误。

Brain. 2014 Nov;137(Pt 11):2903-8. doi: 10.1093/brain/awu216. Epub 2014 Aug 14.

An incidental finding in newborn screening leading to the diagnosis of a patient with mutations.新生儿筛查中的偶然发现导致了一名患有突变患者的诊断。

Mol Genet Metab Rep. 2020 Jan 2;22:100553. doi: 10.1016/j.ymgmr.2019.100553. eCollection 2020 Mar.

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.导致类 Leigh 病和酮症酸中毒的 3-羟基异丁酰辅酶 A 水解酶（HIBCH）缺乏症的临床和生化特征。

Mol Genet Metab Rep. 2014 Oct 16;1:455-460. doi: 10.1016/j.ymgmr.2014.10.003. eCollection 2014.

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.导致常染色体隐性遗传性 Leigh 综合征的 HIBCH 基因突变的鉴定：一个参与缬氨酸代谢的基因。

Pediatr Neurol. 2015 Mar;52(3):361-5. doi: 10.1016/j.pediatrneurol.2014.10.023. Epub 2014 Nov 7.

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.一种轻度人类短链烯酰辅酶A水合酶缺乏症的临床、生化及代谢特征：N-乙酰-S-(2-羧丙基)半胱氨酸排泄增加的意义

J Med Genet. 2015 Oct;52(10):691-8. doi: 10.1136/jmedgenet-2015-103231. Epub 2015 Aug 6.

A therapeutic regimen for 3-hydroxyisobutyryl-CoA hydrolase deficiency with exercise-induced dystonia.治疗运动诱发肌张力障碍的 3-羟基异丁酰基辅酶 A 水解酶缺乏症的方案。

Eur J Paediatr Neurol. 2019 Sep;23(5):755-759. doi: 10.1016/j.ejpn.2017.11.004. Epub 2017 Nov 23.

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.一种由HIBCH基因突变引起的伴有肌张力障碍和共济失调的运动障碍。

Mov Disord. 2016 Nov;31(11):1733-1739. doi: 10.1002/mds.26704. Epub 2016 Jul 12.

[3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].[一名患有类 Leigh 综合征儿童的 3-羟基异丁酰辅酶 A 水解酶缺乏症及文献综述]

Zhonghua Er Ke Za Zhi. 2015 Aug;53(8):626-30.

Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.由HIBCH基因新变异引起的婴儿期综合征性进行性神经退行性疾病：哥伦比亚两例报告

Intractable Rare Dis Res. 2019 Aug;8(3):187-193. doi: 10.5582/irdr.2019.01014.

引用本文的文献

Therapies for Mitochondrial Disease: Past, Present, and Future.线粒体疾病的治疗：过去、现在与未来

J Inherit Metab Dis. 2025 Jul;48(4):e70065. doi: 10.1002/jimd.70065.

Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.扩大线粒体短链烯酰辅酶A水合酶1缺乏症的临床和遗传谱：来自两个无关中国家庭的见解

Mol Genet Genomic Med. 2025 Apr;13(4):e70097. doi: 10.1002/mgg3.70097.

Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in -related Leigh syndrome.酮水平升高作为与Leigh综合征相关的急性加重期的关键磁共振波谱学发现。

Radiol Case Rep. 2024 Sep 24;19(12):6292-6296. doi: 10.1016/j.radcr.2024.08.164. eCollection 2024 Dec.

Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency.缬氨酸与炎症在ECHS1缺乏小鼠模型中引发癫痫。

bioRxiv. 2024 Jun 13:2024.06.13.598697. doi: 10.1101/2024.06.13.598697.

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.一个短链烯酰基辅酶 A 水合酶缺乏症和 Mt-DNA 耗竭的同系家族中新型 ECHS1 基因突变的分子和计算机研究：对三聚体组装和催化活性的影响。

Metab Brain Dis. 2024 Apr;39(4):611-623. doi: 10.1007/s11011-024-01343-6. Epub 2024 Feb 16.

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.由新型HIBCH变异引起的伴有进行性小脑萎缩的 Leigh 样综合征

Hum Genome Var. 2023 Aug 22;10(1):23. doi: 10.1038/s41439-023-00251-y.

Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.酰基辅酶 A 脱氢酶底物的混杂性：用于治疗缬氨酸和异亮氨酸代谢障碍的底物减少疗法的发展挑战和机遇。

J Inherit Metab Dis. 2023 Sep;46(5):931-942. doi: 10.1002/jimd.12642. Epub 2023 Jun 19.

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.患儿患有烯酰基辅酶 A 水合酶，短链 1（ECHS1）缺乏症，经低缬氨酸和低脂肪饮食治疗后临床改善。

Orphanet J Rare Dis. 2022 Sep 5;17(1):340. doi: 10.1186/s13023-022-02468-6.

Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.ECHS1 中致病性双等位基因突变导致短链烯酰基辅酶 A 水合酶（SCEH）缺乏症一例——病例报告及文献复习

Int J Environ Res Public Health. 2022 Feb 13;19(4):2088. doi: 10.3390/ijerph19042088.

Valine metabolites analysis in ECHS1 deficiency.ECHS1缺乏症中的缬氨酸代谢物分析

Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi: 10.1016/j.ymgmr.2021.100809. eCollection 2021 Dec.

本文引用的文献

A therapeutic regimen for 3-hydroxyisobutyryl-CoA hydrolase deficiency with exercise-induced dystonia.治疗运动诱发肌张力障碍的 3-羟基异丁酰基辅酶 A 水解酶缺乏症的方案。

Eur J Paediatr Neurol. 2019 Sep;23(5):755-759. doi: 10.1016/j.ejpn.2017.11.004. Epub 2017 Nov 23.

A novel compound heterozygous variant of identified in a Japanese patient with Leigh syndrome.在一名患有 Leigh 综合征的日本患者中鉴定出一种新的复合杂合变异体。

Hum Genome Var. 2019 Apr 19;6:19. doi: 10.1038/s41439-019-0050-1. eCollection 2019.

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.病例报告和短链烯酰基辅酶 A 水合酶缺乏症所致常染色体隐性 Leigh 综合征的新型治疗方法。

Am J Med Genet A. 2019 May;179(5):803-807. doi: 10.1002/ajmg.a.61074. Epub 2019 Mar 7.

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.用于成功诊断Leigh综合征疑难病例的新一代测序技术。

BMC Neurol. 2018 Jul 20;18(1):99. doi: 10.1186/s12883-018-1103-7.

Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.线粒体短链烯酰辅酶A水合酶（ECHS1）缺乏症中变异期的外推法

JIMD Rep. 2019;43:103-109. doi: 10.1007/8904_2018_111. Epub 2018 Jun 20.

Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.与短链烯酰辅酶A水合酶（ECHS1）缺乏相关的线粒体脂肪酸氧化障碍

Cells. 2018 May 23;7(6):46. doi: 10.3390/cells7060046.

Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.HIBCH 截断突变往往导致 HIBCH 缺乏症病例的严重表型：病例报告及文献复习。

J Hum Genet. 2018 Jul;63(7):851-855. doi: 10.1038/s10038-018-0461-8. Epub 2018 Apr 27.

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.四名短链烯酰辅酶A水合酶（ECHS1）缺乏症患者的临床、生化和遗传特征。

Am J Med Genet A. 2018 May;176(5):1115-1127. doi: 10.1002/ajmg.a.38658. Epub 2018 Mar 25.

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.ECHS1缺乏所致的线粒体脑病与短暂性3-甲基戊二酸尿症：长期随访

JIMD Rep. 2018;39:83-87. doi: 10.1007/8904_2017_48. Epub 2017 Jul 29.

Mol Genet Metab Rep. 2014 Oct 16;1:455-460. doi: 10.1016/j.ymgmr.2014.10.003. eCollection 2014.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验