A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.

Synonyms: Sarcosine dehydrogenase complex deficiency

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Term information

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UMLS:C0268563

MeSH:C537236

MedDRA:10059299

OMIM:268900

ICD-10:E72.5

notation

ORPHA:3129