" /> Alpha-Methylacetoacetic Aciduria - CISMeF





Preferred Label : Alpha-Methylacetoacetic Aciduria;

NCIt synonyms : 3-Ketothiolase Deficiency;

NCIt related terms : Beta-Ketothiolase Deficiency; BKT;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma.;

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29/07/2025


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