Details of Disease

General Information of Disease (ID: DIS7NWEJ)

Disease Name Beta-ketothiolase deficiency
Synonyms
2-Methyl-3-hydroxybutyric acidemia; ALPHA-methylacetoacetic aciduria; 3-Ktd deficiency; Beta ketothiolase deficiency; Mat deficiency; mitochondrial acetoacetyl-Coa thiolase deficiency; 3-oxothiolase deficiency; beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; Alpha methylacetoacetic aciduria; mitochondrial acetoacetyl-coenzyme A thiolase deficiency; 3-ketothiolase deficiency; 2-methyl-3-hydroxybutyricacidemia; mitochondrial acetoacetyl-CoA thiolase deficiency; peroxisomal thiolase deficiency; T2 deficiency; BKT; alpha-methylacetoaceticaciduria
Definition
Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISCXXVK: Classic organic aciduria
DISCFQ1G: Inborn disorder of ketolysis
DIS7NWEJ: Beta-ketothiolase deficiency
Disease Identifiers
MONDO ID
MONDO_0008760
MESH ID
C535434
UMLS CUI
C1536500
OMIM ID
203750
MedGen ID
280689
Orphanet ID
134
SNOMED CT ID
124258007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACAA2 TTM3F49 Strong Biomarker [1]
ACAT1 TTK3C21 Definitive Autosomal recessive [2]
ACAT1 TTK3C21 Definitive Genetic Variation [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACAA1 OTVKRET0 Strong Biomarker [1]
ACAT2 OTZ092ZJ Strong Genetic Variation [4]
HADHB OT4Y1I62 Strong Biomarker [1]
OXCT1 OT536PE7 Strong Biomarker [5]
ACAT1 OTJC60Q7 Definitive Autosomal recessive [2]
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References

1 Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10?years' experience of a medical center in northern Vietnam. J Inherit Metab Dis. 2017 May;40(3):395-401. doi: 10.1007/s10545-017-0026-6. Epub 2017 Feb 20.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China.Front Genet. 2019 May 15;10:451. doi: 10.3389/fgene.2019.00451. eCollection 2019.
4 Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.Hum Mutat. 1995;5(2):113-20. doi: 10.1002/humu.1380050203.
5 Ketone body metabolism and its defects.J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8.