ONTOLOGY REPORT - ANNOTATIONS


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-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-KTD DEFICIENCY;   3-Methylhydroxybutyric Acidemia;   3-ketothiolase deficiency;   3-oxothiolase deficiency;   Alpha-Methylacetoacetic Aciduria;   Alpha-methylacetoaceticaciduria;   B-Ketothiolase Deficiency;   MAT DEFICIENCY;   Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated;   Mitochondrial Acetoacetyl-CoA Thiolase deficiency;   T2 Deficiency;   peroxisomal thiolase deficiency
 primary_id: MESH:C535434;   RDO:0000542
 alt_id: OMIM:203750
 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
RGD:8554872

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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            beta-ketothiolase deficiency 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                beta-ketothiolase deficiency 1
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