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carnosinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

carnosinemia

MONDO:0008921

Also known as:Carnosinase deficiencyhomocarnosinosis

Overview

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.

GeneticsAutosomal recessive

ResearchLimited published research (6 articles)

Clinical Presentation

Features include: Carnosinuria, Generalized myoclonic seizure, and Intellectual disability.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Generalized myoclonic seizure, Intellectual disability

Explore clinical features

Diagnosis

Biomarker and diagnostic research for carnosinemia has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 carnosinemia.

6 publications have been identified in PubMed for carnosinemia. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Parmeggiani B (2026). [PMID: 41894036](https://pubmed.ncbi.nlm.nih.gov/41894036/). *Neurochemical research*. [Review / Meta-Analysis]
Barbati SA (2025). [PMID: 41527663](https://pubmed.ncbi.nlm.nih.gov/41527663/). *AIMS neuroscience*. [Review / Meta-Analysis]
Rivas JA (2025). [PMID: 41000700](https://pubmed.ncbi.nlm.nih.gov/41000700/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Küper K (2024). [PMID: 39673003](https://pubmed.ncbi.nlm.nih.gov/39673003/). *Amino acids*. [Diagnostic / Biomarker]
Toviwek B (2024). [PMID: 39574306](https://pubmed.ncbi.nlm.nih.gov/39574306/). *The journal of physical chemistry. B*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:212200

Orphanet

European rare disease database

Orphanet:1361

GARD

Genetic and Rare Diseases Info Center

GARD:6001

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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carnosinemia

Overview

Clinical Presentation

Explore clinical features

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