β-Ketothiolase Deficiency

is a defect of mitochondrial acetoacetyl-CoA thiolase (T2) involving ketone body metabolism and isoleucine catabolism. This disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. It is clinically characterized by intermittent ketoacidotic episodes, with no clinical symptoms between episodes. Ketoacidotic episodes are usually severe and sometimes accompanied by lethargy/coma. Some patients may have neurologicalimpairments as a sequela of these episodes. (Source: Orphanet)

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