Sarcosinemia

Orpha code: 3129OMIM code: 268900

Definicja

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
Klasyfikacja

Disease

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl