Abstract
Mitochondrial 2-methylacetoacetyl-CoA (mtMAA-CoA) thiolase deficiency (McKusick 203750) is a disorder of isoleucine (ile) and ketone body metabolism, characterized by ketoacidosis, vomiting, dehydration, and lethargy developing to coma. There is urinary excretion of 2-methyl-3-hydroxybutyric acid, tiglylglycine, and in some cases also 2-methylacetoacetic acid. Since the clinical presentation as well as the organic aciduria is highly variable in this disorder (Iden et al 1990), we decided to study the possibility of genetic heterogeneity by performing genetic complementation analysis of cultured fibroblasts
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