Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases-Reference-Cited by-同舟云学术

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Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases

Published:2021-09-14 Issue:1 Volume:62 Page:91-96
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Alghamdi Malak A.¹,Tohary Mohammed²,Alzaidan Hamad²,Imtiaz Faiqa³,Al‐Hassnan Zuhair N.²^ORCID

Affiliation:

1. Medical Genetic Division, Pediatrics Department, College of Medicine King Saud University Riyadh Saudi Arabia

2. Department of Medical Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

3. Department of Clinical Genomics Center of Genomic Medicine, King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12248

Reference7 articles.

1. Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency. A CAUSE FOR KETOACIDOSIS IN INFANCY

2. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

3. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease

4. Hyperketotic States Due to Inherited Defects of Ketolysis

5. Infantile ketoacidosis associated with decreased activity of succinyl-CoA: 3-ketoacid CoA-transferase

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1. The Deficits of Insulin Signal in Alzheimer’s Disease and the Mechanisms of Vanadium Compounds in Curing AD;Current Issues in Molecular Biology;2023-07-31

2. SCOT Deficiency – A Fatal Metabolic Disorder Treated with Peritoneal Dialysis;Indian Journal of Pediatrics;2023-03-23

3. Function and treatment strategies of β-hydroxybutyrate in aging;Smart Materials in Medicine;2023

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