Beta-ketothiolase deficiency
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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.[1][2] Along with SCOT deficiency, it belongs to a group of disorders called ketone utilisation disorders.
Quick Facts Other names ...
Beta-ketothiolase deficiency | |
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Other names | 3-oxothiolase deficiency, Mitochondrial acetoacetyl-coenzyme A thiolase deficiency, Alpha-methyl-acetoacetyl-CoA thiolase deficiency |
Isoleucine |
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The typical age of onset for this disorder is between 6 months and 24 months.