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

BACKGROUND: Isobutyryl‐CoA dehydrogenase (IBD) is a mitochondrial enzyme catalysing the third step in the degradation of the essential branched‐chain amino acid valine and is encoded by ACAD8. ACAD8 mutations lead to isobutyryl‐CoA dehydrogenase deficiency (IBDD), which is identified by increased C4...

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Detalles Bibliográficos
Autores principales: Eleftheriadou, Maria, Medici‐ van den Herik, Evita, Stuurman, Kyra, van Bever, Yolande, Hellebrekers, Debby M. E. I., van Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077115/
https://www.ncbi.nlm.nih.gov/pubmed/33432785
http://dx.doi.org/10.1002/mgg3.1595

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077115/
https://www.ncbi.nlm.nih.gov/pubmed/33432785
http://dx.doi.org/10.1002/mgg3.1595

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