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Sarcosinemia

Disease definition

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.

ORPHA:3129

Classification level: Disorder
  • Synonym(s):
    • Sarcosine dehydrogenase complex deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.5
  • ICD-11: 5C50.71
  • OMIM: 268900
  • UMLS: C0268563
  • MeSH: C537236
  • GARD: 158
  • MedDRA: 10059299

  A summary on this disease is available in Português (2001) Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.