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sarcosinemia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.
Uniprot Description A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems.
Mondo Term and Equivalent IDs
MONDO:0010008:  sarcosinemia
GARD:0000158: 
MESH:C537236: 
Orphanet:3129: 
SCTID:64852002: 
UMLS:C0268563: