Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report-Reference-Cited by-同舟云学术

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Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

Published:2021-01-11 Issue:2 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Eleftheriadou Maria¹,Medici‐ van den Herik Evita²,Stuurman Kyra¹,Bever Yolande¹,Hellebrekers Debby M. E. I.³,Slegtenhorst Marjon¹,Ruijter George¹,Barakat Tahsin Stefan¹^ORCID

Affiliation:

1. Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam the Netherlands

2. Department of Neurology Erasmus MC University Medical Center Rotterdam the Netherlands

3. Department of Clinical Genetics Maastricht University Medical Center Maastricht the Netherlands

Funder

ZonMw

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1595

Reference33 articles.

1. Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism

2. Structures of Isobutyryl-CoA Dehydrogenase and Enzyme-Product Complex

3. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

4. Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase.

5. Identification and Evaluation of Children With Autism Spectrum Disorders

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Acyl‐CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism;Journal of Inherited Metabolic Disease;2023-06-19

2. Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis;JIMD Reports;2022-05-07

3. Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing;Frontiers in Genetics;2022-01-28

4. Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8;Orphanet Journal of Rare Diseases;2021-09-20

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