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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.
The Medical Journal of Malaysia
|May 13, 2019
Summary
Methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, a genetic disorder affecting isoleucine metabolism, can lead to severe ketoacidosis. This report details a successful recovery of a young patient with beta-ketothiolase deficiency.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Methylacetoacetyl-coenzyme A thiolase (MAT) deficiency is an inherited metabolic disorder.
- It results from defects in the mitochondrial acetoacetyl-CoA thiolase (T2) enzyme, impacting isoleucine catabolism and ketone body utilization.
- Mutations in the acetyl-Coenzyme A acetyltransferase 1 (ACAT1) gene are the underlying cause.
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