Beta-ketothiolase deficiency

Beta-ketothiolase deficiency
Other names3-oxothiolase deficiency, Mitochondrial acetoacetyl-coenzyme A thiolase deficiency, Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Isoleucine

Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown. Along with SCOT deficiency, it belongs to a group of disorders called ketone utilisation disorders.

The typical age of onset for this disorder is between 6 months and 24 months.

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