Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis-Reference-Cited by-同舟云学术

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

Published:2015 Issue: Volume: Page:33-38
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Balasubramaniam Shanti,Lewis Barry,Greed Lawrence,Meili David,Flier Annegret,Yamamoto Raina,Bilić Karmen,Till Claudia,Sass Jörn Oliver

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_519

Reference10 articles.

1. Fei F, Guo X, Chen Y, Liu X, Tu J, Xing J, Chen Z, Ji J, He X (2015) Polymorphisms of monocarboxylate transporter genes are associated with clinical outcomes in patients with colorectal cancer. J Cancer Res Clin Oncol 141:1095–1102

2. Fukao T, Song XQ, Yamaguchi S, Hashimoto T, Orii T, Kondo N (1996) Immunotitration analysis of cytosolic acetoacetyl-coenzyme A thiolase activity in human fibroblasts. Pediatr Res 39:1055–1058

3. Fukao T, Shintaku H, Kusubae R, Zhang X-Q, Nakamura K, Kondo M, Kondo N (2004) Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA transferase (SCOT) do not show permanent ketosis. Pediatr Res 56:858–863

4. Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM, Kuwada N, Imamuram I, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N (2011) Three Japanese patients with beta-ketothiolase deficiency who share a mutation, c.431A>C (H144P) in ACAT1. Subtle abnormality in urinary organic acid analysis and blood acylcarnitine analysis using tandem mass spectrometry. JIMD Rep 3:107–115

5. Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y (2014) Ketone body metabolism and its defects. J Inherit Metab Dis 37:541–551

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