A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s12291-019-00851-y.pdf
Reference9 articles.
1. Abdelkreem E, Otsuka H, Sasai H, Aoyama Y, Hori T, Abd El Aal M, et al. Beta-ketothiolase deficiency: resolving challenges in diagnosis. J Inborn Errors Metab Screen. 2016;4:26409816636644. https://doi.org/10.1177/2326409816636644 .
2. Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, et al. Beta-ketothiolase deficiency presenting with metabolic stroke after a normal newborn screen in two individuals. JIMD Rep. 2017;39:45–544.
3. Abdelkreem E, Alobaidy H, Aoyama Y, Mahmoud S, Abd El Aal M, Fukao T. Two Libyan siblings with beta-ketothiolase deficiency: a case report and review of literature. Egypt J Med Hum Genet. 2017;18(2):199–203.
4. Weerasinghe WAG, Jasinge E, Sarathchandra JC, Chinthaka RAK. Intermittent episodes of metabolic ketoacidosis in a seven-year-old boy: mitochondrial Beta-ketothiolase deficiency. Galle Med J. 2013;18(1):51–3.
5. Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, et al. Inborn errors of ketone body utilization, c.431A>C (H144P) in ACAT1: subtle abnormality in urinary organic acid analysis and blood acylcarnitine analysis using tandem mass spectrometry. Pediatr Int. 2015;57(1):41–8.
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