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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:30311386, 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          amino acid metabolic disorder 432
            beta-ketothiolase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                beta-ketothiolase deficiency 2
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