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Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.
Features include: Hypersarcosinemia.
SARDH function has not been fully characterized.
Sarcosinemia has limited evidence linking it to mutations in the SARDH gene on chromosome 9.
Genetic testing for SARDH is available. Testing is considered research-grade for diagnosis.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for sarcosinemia.
2 publications have been identified in PubMed for sarcosinemia. Research spans Basic Science / Preclinical (100%).
Shan G (2025). [PMID: 40275333](https://pubmed.ncbi.nlm.nih.gov/40275333/). *Experimental hematology & oncology*. [Basic Science / Preclinical]
Sun Y (2025). [PMID: 40313243](https://pubmed.ncbi.nlm.nih.gov/40313243/). *Frontiers in oncology*. [Basic Science / Preclinical]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 4:16 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center