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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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Publicat a:Cureus
Autors principals: Khan, Adnan, Zahid, Bakhtyar, Khan, Sarbiland, Ahmad, Samreen A
Format: Artigo
Idioma:Inglês
Publicat: Cureus 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7108672/
https://ncbi.nlm.nih.gov/pubmed/32257695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.7150
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