Classical homocystinuria (Q55594)
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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 |
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| 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). |
