Beta-ketothiolase deficiency in a Malaysian infant
- Author:
Rajan Duda
1
;
Constance Liew Sat Lin
1
;
Brandon Patrick
2
Author Information
- Publication Type:Case Reports
- From: The Medical Journal of Malaysia 2019;74(2):174-175
- CountryMalaysia
- Language:English
- 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..
- Full text:6.2019.my1410.pdf
