Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study

Isovaleric acidemia (IVA) is an organic acid disease caused by a deficiency of isovaleryl-CoA dehydrogenase. Deficiency of this enzyme leads to accumulation of organic acids, such as isovalerylcarnitine and isovalerylglycine. The proposed IVA treatments include leucine restriction and l-carnitine an...

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Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Autores principales: Chinen, Yasutsugu, Nakamura, Sadao, Tamashiro, Kunihito, Sakamoto, Osamu, Tashiro, Kyoko, Inokuchi, Takahiro, Nakanishi, Koichi
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2017
Materias:
Research Paper
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6282653/
https://ncbi.nlm.nih.gov/pubmed/30547004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.03.002
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