Sarcosinemia

Orpha code: 3129OMIM code: 268900

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.

Disease data
Classification

Disease

Synonyms
Sarcosine dehydrogenase complex deficiency
Niedobór kompleksu dehydrogenazy sarkozyny
ORPHA code
3129
OMIM code
268900
ICD10 code
E72.5
ICD11 code
5C50.71

No additional description.

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