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bile acid CoA:amino acid N-acyltransferase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

bile acid CoA:amino acid N-acyltransferase deficiency

MONDO:0100305

Also known as:BAAT deficiency

Overview

Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.

ResearchLimited published research (3 articles)

Diagnosis

Biomarker and diagnostic research for bile acid CoA:amino acid N-acyltransferase deficiency has been reported in the published literature.

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.

No clinical trials have been registered for bile acid CoA:amino acid N-acyltransferase deficiency.

3 publications have been identified in PubMed for bile acid CoA:amino acid N-acyltransferase deficiency. Research spans Basic Science / Preclinical (67%) and Diagnostic / Biomarker (33%).

Recent Publications

Fube L (2026). [PMID: 41637428](https://pubmed.ncbi.nlm.nih.gov/41637428/). *PloS one*. [Basic Science / Preclinical]
Jiang CS (2025). [PMID: 39851575](https://pubmed.ncbi.nlm.nih.gov/39851575/). *Cells*. [Basic Science / Preclinical]
Nittono H (2024). [PMID: 38646510](https://pubmed.ncbi.nlm.nih.gov/38646510/). *Frontiers in pediatrics*. [Diagnostic / Biomarker]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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bile acid CoA:amino acid N-acyltransferase deficiency

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team