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sarcosinemia
Epidemiology:
- prevalence has been estimated at 1:28,000 to 1:350,000 in newborn screening program
Pathology:
- sarcosine dehydrogenase deficiency
- probably a benign condition without significant clinical problems
Genetics:
- autosomal recessive
- associated with defects in SARDH
Laboratory:
- plasma sarcosine increased urine sarcosine increased
General
inborn error of metabolism
Database Correlations
OMIM 268900
References
OMIM :accession 268900