Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism

Isovaleric acidemia (IVA) is an autosomal recessive disease of the leucine metabolism due to a deficiency of isovaleryl-CoA dehydrogenase (IVD). We report the case of a six-month-old girl admitted with a seven-day history of fever, cough, stridor, vomiting, and respiratory distress. Second-degree co...

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Detalles Bibliográficos
Autores principales: Khan, Adnan, Zahid, Bakhtyar, Khan, Sarbiland, Ahmad, Samreen A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7108672/
https://www.ncbi.nlm.nih.gov/pubmed/32257695
http://dx.doi.org/10.7759/cureus.7150

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7108672/
https://www.ncbi.nlm.nih.gov/pubmed/32257695
http://dx.doi.org/10.7759/cureus.7150

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