Classical homocystinuria (Q55594): Difference between revisions

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Latest revision as of 03:15, 14 August 2026

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is an autosomal recessively inherited disorder of methionine metabolism characterised by the multiple involvement of the eye (ectopia lentis), skeleton genu valgum and pes cavus), central nervous system intellectual deficit, psychiatric illness), and vascular system (thromboembolism).

Language	Label	Description	Also known as
default for all languages	ID_1480749127
English	Classical homocystinuria	Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is an autosomal recessively inherited disorder of methionine metabolism characterised by the multiple involvement of the eye (ectopia lentis), skeleton genu valgum and pes cavus), central nervous system intellectual deficit, psychiatric illness), and vascular system (thromboembolism).