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Term:beta-ketothiolase deficiency
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Accession:DOID:14723 term browser browse the term
Definition:An autosomal recessive disease characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. (DO)
Synonyms:exact_synonym: 2-Methyl-3-Hydroxybutyric Acidemia;   2-alpha-methyl-3-hydroxybutyricacidemia;   2-methyl-3-hydroxybutyricacidemia;   3-Alpha-Ketothiolase Deficiency;   3-Alpha-Ktd Deficiency;   3-Alpha-Oxothiolase Deficiency;   3-KTD DEFICIENCY;   3-Methylhydroxybutyric Acidemia;   3-ketothiolase deficiency;   3-oxothiolase deficiency;   Alpha-Methylacetoacetic Aciduria;   Alpha-methylacetoaceticaciduria;   B-Ketothiolase Deficiency;   DEFICIENCY OF ACETYL-COA ACETYLTRANSFERASE;   MAT DEFICIENCY;   Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated;   Mitochondrial Acetoacetyl-CoA Thiolase deficiency;   T2 deficiency;   peroxisomal thiolase deficiency
 primary_id: MESH:C535434
 alt_id: OMIM:203750;   RDO:0000542
 xref: GARD:872
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beta-ketothiolase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acat1 acetyl-CoA acetyltransferase 1 JBrowse link 8 58,166,990 58,195,884 RGD:7240710
G Acat2 acetyl-CoA acetyltransferase 2 JBrowse link 1 47,972,399 47,992,654 RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          amino acid metabolic disorder 326
            beta-ketothiolase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                beta-ketothiolase deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.