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...

Descripción completa

Detalles Bibliográficos
Autores principales: Alotaibi, Maha, Alqasmi, Amal, Albassam, Faisal, Alkahtani, Turki, Alqahtany, Muath, Alkhaldi, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10564565/
https://www.ncbi.nlm.nih.gov/pubmed/37822418
http://dx.doi.org/10.1055/s-0043-1775979

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10564565/
https://www.ncbi.nlm.nih.gov/pubmed/37822418
http://dx.doi.org/10.1055/s-0043-1775979

Ejemplares similares