Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

BACKGROUND: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid in body fluids as a consequence of a disruption in isoleucine metabolism. The clinical presentation is heterogeneous, including a...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Stepien, Karolina M., McCarthy, Philomena, Treacy, Eileen P., O'Byrne, James J., Pastores, Gregory M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6019692/
https://ncbi.nlm.nih.gov/pubmed/30013934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.06.005
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