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.

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.

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