Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis

We describe two half-siblings with monocarboxylate transporter 1 (MCT1, SLC16A1) deficiency, a defect on ketone body utilization, that has only recently been identified (van Hasselt et al., N Engl J Med, 371:1900–1907, 2014) as a cause for recurrent ketoacidoses. Our index patient is a boy with non-...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Balasubramaniam, Shanti, Lewis, Barry, Greed, Lawrence, Meili, David, Flier, Annegret, Yamamoto, Raina, Bilić, Karmen, Till, Claudia, Sass, Jörn Oliver
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059203/
https://ncbi.nlm.nih.gov/pubmed/26608392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_519
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