Cystathioninuria

Orpha code: 212OMIM code: 219500

Definicja

A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.

Disease data
Klasyfikacja

Disease

Synonimy
Cystathionase deficiency
Niedobóe gamma-cystationazy
Niedobór cystationazy
Niedobór liazy gamma - cystationu
Cystathionine gamma-lyase deficiency syndrome
Gamma-cystathionase deficiency
Kod ORPHA
212
Kod OMIM
219500
Kod ICD10
E72.1
Kod ICD11
5C50.B

No additional description.

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