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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:beta-ketothiolase deficiency
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Accession:DOID:14723 term browser browse the term
Definition:An amino acid metabolic disorder 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
 xref: GARD:872;   ORDO:134
For additional species annotation, visit the Alliance of Genome Resources.

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beta-ketothiolase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
ClinVar Annotator: match by OMIM:203750
ClinVar Annotator: match by term: Beta ketothiolase deficiency
PMID:1346617 PMID:1373235 PMID:1627655 PMID:1715688 PMID:4690360 PMID:7173255 PMID:7728148 PMID:7728155 PMID:7749408 PMID:7907600 PMID:8103405 PMID:9700610 PMID:9744475 PMID:11161836 PMID:11161837 PMID:11914035 PMID:12754704 PMID:15128923 PMID:15877211 PMID:17236799 PMID:18511318 PMID:20046049 PMID:20156697 PMID:20488739 PMID:21669895 PMID:23430882 PMID:23958592 PMID:24517888 PMID:25741868 PMID:27264805 PMID:27748876 PMID:27928777 PMID:28220263 PMID:28361105 PMID:28393214 PMID:28492532 PMID:28689740 PMID:28726122 PMID:28875337 PMID:29624230 PMID:30393371 PMID:30835345 PMID:31268215 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
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G Acat2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:25741868 PMID:31268215 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        inherited metabolic disorder 2234
          amino acid metabolic disorder 433
            beta-ketothiolase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                beta-ketothiolase deficiency 2
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