beta-ketothiolase deficiency
Findings
No curated finding names beta-ketothiolase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008760), read 2026-09-29. CC BY 4.0.
Features
43 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated urinary 2-methyl-3-hydroxybutyric acid levelHPOHP:6000603
- 1 of 1 reported patient
- Abnormality of mental functionHPOHP:0011446
- Very frequent (80% to 99% of cases)
- AcidosisHPOHP:0001941
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- HyperuricemiaHPOHP:0002149
- Very frequent (80% to 99% of cases)
- KetonuriaHPOHP:0002919
- Very frequent (80% to 99% of cases)
- Metabolic acidosisHPOHP:0001942
- Very frequent (80% to 99% of cases)
- TachypneaHPOHP:0002789
- Very frequent (80% to 99% of cases)
- VomitingHPOHP:0002013
- Very frequent (80% to 99% of cases)
- ApathyHPOHP:0000741
- Frequent (30% to 79% of cases)
- ComaHPOHP:0001259
- Frequent (30% to 79% of cases)
- CoughHPOHP:0012735
- Frequent (30% to 79% of cases)
Show the remaining 31
- DehydrationHPOHP:0001944
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Frequent (30% to 79% of cases)
- HyperammonemiaHPOHP:0001987
- Frequent (30% to 79% of cases)
- Increased total leukocyte countHPOHP:0001974
- Frequent (30% to 79% of cases)
- KetoacidosisHPOHP:0001993
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACAT1HGNC:93
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: beta-ketothiolase deficiency
- Also called
- 3-ketothiolase deficiency3-oxothiolase deficiencyAlpha methylacetoacetic aciduriaAlpha-methyl-acetoacetyl-CoA thiolase deficiencyBKTmitochondrial acetoacetyl-CoA thiolase deficiencymitochondrial acetoacetyl-coenzyme A thiolase deficiencyT2 deficiency