Monocarboxylate Transporter 1 Deficiency and Ketone Utilization  

Oleh:

Hasselt, Peter M. van ; Ferdinandusse, Sacha ; Monroe, Glen R. ; Ruiter, Jos P.N. ; Turkenburg, Marjolein

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 371 no. 20 (Nov. 2014), page 1900-1907.
Topik: Ketoacidosis; Monocarboxylate Transporter

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2014.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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 defects yielded seven additional inactivating mutations in MCT1, both homozygous and heterozygous. Mutational status was found to be correlated with ketoacidosis severity, MCT1 protein levels, and transport capacity. Thus, MCT1 deficiency is a novel cause of profound ketoacidosis; the present work suggests that MCT1-mediated ketone-body transport is needed to maintain acid–base balance.

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