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Sarcosinemia

Disease definition

Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.

ORPHA:3129

  • Synonym(s):
    • Sarcosine dehydrogenase complex deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.5
  • OMIM: 268900
  • UMLS: C0268563
  • MeSH: C537236
  • GARD: 158
  • MedDRA: 10059299

Additional information

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