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Published on: December 26, 2013
Beta-ketothiolase deficiency in a Malaysian infant
D Rajan1, L S L Constance2, P Brandon3
1Universiti Malaysia Sabah, Department of Medical Sciences, Malaysia. rajan_duda@hotmail.com.
Abstract:
Methylacetoacetyl-coenzyme A thiolase (MAT) deficiency is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase (T2). There is an error of isoleucine catabolism and ketone body utilization due to mutations in the acetyl-Coenzyme A acetyltransferase 1 (ACAT1) gene. We report a case of a 14 months old Sabahan boy with beta deficiency who presented with severe sepsis and ketoacidosis who subsequently recovered.
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