Classic homocystinuria

Orpha code: 394OMIM code: 236200

Definition

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

Disease data
Classification

Disease

Synonyms
Cystathionine beta-synthase deficiency
Homocystynuria spowodowana niedoborem beta-syntazy cystationu
Niedobór beta-syntazy cystationu
Homocystinuria due to cystathionine beta-synthase deficiency
ORPHA code
394
OMIM code
236200
ICD10 code
E72.1
ICD11 code
5C50.B

No additional description.

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