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  • Title: Beta-ketothiolase deficiency in a Malaysian infant.
    Author: Rajan D, Constance LSL, Brandon P.
    Journal: Med J Malaysia; 2019 Apr; 74(2):174-175. PubMed ID: 31079130.
    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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