Article
Monocarboxylate transporter 1 deficiency and ketone utilization.
The New England journal of medicine - 13 Nov 2014
van Hasselt Peter M, Ferdinandusse Sacha, Monroe Glen R, Ruiter Jos P N, Turkenburg Marjolein, Geerlings Maartje J, Duran Karen, Harakalova Magdalena, van der Zwaag Bert, Monavari Ardeshir A, Okur Ilyas, Sharrard Mark J, Cleary Maureen, O'Connell Nuala, Walker Valerie, Rubio-Gozalbo M Estela, de Vries Maaike C, Visser Gepke, Houwen Roderick H J, van der Smagt Jasper J, Verhoeven-Duif Nanda M, Wanders Ronald J A, van Haaften Gijs
Abstract excerpt
Ketoacidosis is a potentially lethal condition caused by the imbalance between hepatic production and extrahepatic utilization of ketone bodies. We performed exome sequencing in a patient with recurrent, severe ketoacidosis and identified a homozygous frameshift mutation in the gene encoding monocarboxylate transporter 1 (SLC16A1, also called MCT1). Genetic analysis in 96 patients suspected of having ketolytic...
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