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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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| 出版年: | JIMD Rep |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Berlin Heidelberg
2015
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| 主題: | |
| オンライン･アクセス: | 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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