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An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.
Biomarker and diagnostic research for inborn disorder of ketolysis has been reported in the published literature.
No clinical trials have been registered for inborn disorder of ketolysis.
28 publications have been identified in PubMed for inborn disorder of ketolysis. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (21%), and Case Report / Case Series (21%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 12 | 43% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:09 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
6 |
21% |
Patient case studies | 6 | 21% |
Testing and diagnosis research | 2 | 7% |
Clinical study results | 1 | 4% |
Disease patterns and progression | 1 | 4% |
Grünert SC (2026). [PMID: 41554131](https://pubmed.ncbi.nlm.nih.gov/41554131/). *J Inherit Metab Dis*. [Basic Science / Preclinical]
Omachi S (2026). [PMID: 41801188](https://pubmed.ncbi.nlm.nih.gov/41801188/). *FASEB J*. [Basic Science / Preclinical]
Shi Y (2026). [PMID: 41456628](https://pubmed.ncbi.nlm.nih.gov/41456628/). *Cell Signal*. [Basic Science / Preclinical]
Marcadet L (2026). [PMID: 40971894](https://pubmed.ncbi.nlm.nih.gov/40971894/). *Brain*. [Basic Science / Preclinical]
Darbinian E (2026). [PMID: 41326329](https://pubmed.ncbi.nlm.nih.gov/41326329/). *Blood*. [Diagnostic / Biomarker]
Rossitto LM (2026). [PMID: 41676474](https://pubmed.ncbi.nlm.nih.gov/41676474/). *bioRxiv*. [Case Report / Case Series]
Cai H (2026). [PMID: 42058508](https://pubmed.ncbi.nlm.nih.gov/42058508/). *Cell Insight*. [Epidemiology / Natural History]
Adachi N (2026). [PMID: 41521529](https://pubmed.ncbi.nlm.nih.gov/41521529/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Schoenlaub AK (2025). [PMID: 40135138](https://pubmed.ncbi.nlm.nih.gov/40135138/). *JIMD Rep*. [Case Report / Case Series]
Gregor AN (2025). [PMID: 40048912](https://pubmed.ncbi.nlm.nih.gov/40048912/). *Mol Genet Metab*. [Clinical Trial Publication]