The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13

The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13

One of the most common inborn errors in fatty acid β oxidation (FAO) is a very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. It is autosomal recessive. The enzyme used in the first phase of FAO is VLCAD. The enzyme is responsible for β oxidation spiral pathway's initial step, the...

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Bibliographic Details
Main Authors: Maha Alotaibi, Amal Alqasmi, Faisal Albassam, Turki Alkahtani, Muath Alqahtany, Mohammed Alkhaldi
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2023-12-01
Series:Global Medical Genetics
Subjects:
FBXL4
hypoglycemia
mitochondrial DNA
mitochondrial diseases
very long-chain acyl-CoA dehydrogenase deficiency
pediatric genetics
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1775979
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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1775979

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