GenTIGSA Gene Database on Rare Genetic Disorders
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Deficiency Of Acetyl-CoA Acetyltransferase  
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

 


Cross-references of Deficiency of acetyl-CoA acetyltransferase OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations