Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh’s disease

PURPOSE: 3-hydroxyisobutryl-CoA hydrolase (HIBCH) deficiency is a rare disorder of valine metabolism. We present a family with the oldest reported subjects with HIBCH deficiency and provide support that HIBCH deficiency should be included in the differential for elevated hydroxy-C4-carnitine in newb...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Stiles, Ashlee R., Ferdinandusse, Sacha, Besse, Arnaud, Appadurai, Vivek, Leydiker, Karen B., Cambray-Forker, E.J., Bonnen, Penelope E., Abdenur, Jose E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4852729/
https://ncbi.nlm.nih.gov/pubmed/26026795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2015.05.008
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