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beta-ketothiolase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated urinary 2-methyl-3-hydroxybutyric acid level; and very common findings: Vomiting, Acidosis, Metabolic acidosis, and Fever and others. 46 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Intellectual disability, Lack of interest or motivation (apathy), Excessive daytime somnolence
Digestive system	4	Vomiting, Diarrhea, Anorexia
Metabolism	3	Metabolic acidosis, Fever, Abnormal metabolic brain imaging by MRS
Blood and immune system	2	Elevated platelet count (thrombocytosis), Elevated white blood cell count (increased total leukocyte count)
Kidneys and urinary system	1	Elevated urinary 2-methyl-3-hydroxybutyric acid level
Cognition	1	Abnormality of mental function
Heart and blood vessels	1	Hypertension
Muscles	1	Low muscle tone (hypotonia)
Growth and development	1	Weight loss
Lab test results	1	Increased circulating lactate concentration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ACAT1 encodes acetyl-CoA acetyltransferase 1 (427 aa). This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Highest expression in Liver (126.7 TPM) and Muscle Skeletal (97.7 TPM).

Beta-ketothiolase deficiency is caused by mutations in the ACAT1 gene on chromosome 11.

The ACAT1 protein participates in N158D ACAT1(35-427), G183R ACAT1(35-427), and N93S ACAT1(35-427) pathways.

ACAT1 is classified as a druggable target (Enzyme category) with score 2.5.

224 pathogenic variants reported in ACAT1 in ClinVar, including hotspot variants LRG_1400p1:p.Asn375Ser (2-star review) and LRG_1400p1:p.Met193Arg (2-star review).

Variant	Significance	Review Stars	Hotspot
LRG_1400p1:p.Asn375Ser	Pathogenic/Likely pathogenic	2 stars	Yes
LRG_1400p1:p.Met193Arg	Pathogenic/Likely pathogenic	2 stars	Yes
LRG_1400p1:p.Ile387Thr	Pathogenic/Likely pathogenic	2 stars	Yes
LRG_1400p1:p.Gly152Ala	Pathogenic/Likely pathogenic	2 stars	Yes
LRG_1400p1:p.Thr297Met	Pathogenic/Likely pathogenic	2 stars	Yes

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

13 publications have been identified in PubMed for beta-ketothiolase deficiency. Research spans Case Report / Case Series (54%), Diagnostic / Biomarker (23%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Patient case studies	7	54%
Testing and diagnosis research	3	23%
Research summaries	1	8%
Clinical study results	1	8%
Laboratory research	1	8%

Recent Publications

Wang L (2026). [PMID: 41986274](https://pubmed.ncbi.nlm.nih.gov/41986274/). *Zhonghua Er Ke Za Zhi*. [Case Report / Case Series]
Jin JL (2026). [PMID: 41639795](https://pubmed.ncbi.nlm.nih.gov/41639795/). *BMC pediatrics*. [Diagnostic / Biomarker]
Vasco A (2025). [PMID: 40981306](https://pubmed.ncbi.nlm.nih.gov/40981306/). *International journal of neonatal screening*. [Case Report / Case Series]
Campos-Acevedo LD (2025). [PMID: 41283373](https://pubmed.ncbi.nlm.nih.gov/41283373/). *Pediatric reports*. [Case Report / Case Series]
Dweikat IM (2025). [PMID: 40598206](https://pubmed.ncbi.nlm.nih.gov/40598206/). *BMC medical genomics*. [Case Report / Case Series]
Duque Lasio ML (2025). [PMID: 40479756](https://pubmed.ncbi.nlm.nih.gov/40479756/). *Molecular genetics and metabolism*. [Diagnostic / Biomarker]
Al-Sawadi I (2025). [PMID: 41180774](https://pubmed.ncbi.nlm.nih.gov/41180774/). *Annals of medicine and surgery (2012)*. [Basic Science / Preclinical]
Li X (2025). [PMID: 39582021](https://pubmed.ncbi.nlm.nih.gov/39582021/). *Journal of human genetics*. [Clinical Trial Publication]
Zhen XM (2024). [PMID: 38853254](https://pubmed.ncbi.nlm.nih.gov/38853254/). *Clinical diabetes and endocrinology*. [Case Report / Case Series]
Nelson AT (2024). [PMID: 38788890](https://pubmed.ncbi.nlm.nih.gov/38788890/). *Clinica chimica acta; international journal of clinical chemistry*. [Diagnostic / Biomarker]

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beta-ketothiolase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Beta-ketothiolase deficiency: two novel ACAT1 variants and a retrospective study of 76 cases in China.

Beta-ketothiolase deficiency with progressive basal ganglia and extra basal ganglia involvement: CT-MRI correlation in a pediatric metabolic encephalopathy: A case report.

beta-ketothiolase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Beta-ketothiolase deficiency: two novel ACAT1 variants and a retrospective study of 76 cases in China.

Beta-ketothiolase deficiency with progressive basal ganglia and extra basal ganglia involvement: CT-MRI correlation in a pediatric metabolic encephalopathy: A case report.