Disease Aliases (24) | 2-alpha-methyl-3-hydroxybutyricacidemia 2-methyl-3-hydroxybutyric acidemia 2-methyl-3-hydroxybutyricacidemia 3-alpha-ketothiolase deficiency 3-alpha-ktd deficiency 3-alpha-oxothiolase deficiency 3-ketothiolase deficiency 3-ktd deficiency 3-methylhydroxybutyric acidemia 3-oxothiolase deficiency Alpha-methylacetoacetic aciduria Alpha methylacetoacetic aciduria Alpha-methyl-acetoacetyl-coa thiolase deficiency Alpha-methylacetoaceticaciduria B-ketothiolase deficiency Beta-ketothiolase deficiency Bkt Beta ketothiolase deficiency Mat deficiency Mitochondrial acetoacetyl-coa thiolase deficiency Mitochondrial 2-methylacetoacetyl-coa thiolase deficiency - potassium stimulated Mitochondrial acetoacetyl-coenzyme a thiolase deficiency T2 deficiency Peroxisomal thiolase deficiency |
Associated Genes (1) NCBI-RefSeq: ACAT1 (Acetyl-CoA acetyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
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Cross-references of Deficiency of acetyl-CoA acetyltransferase | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |