Classical homocystinuria (Q55594): Difference between revisions
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A homocistinúria clássica devido à deficiência de cistationina beta-sintase é um distúrbio hereditário autossômico recessivo do metabolismo da metionina, caracterizado pelo envolvimento múltiplo do olho (ectopia lentis), esqueleto com genu valgo e pés cavos, deficiência intelectual, doença psiquiátrica e do sistema vascular (tromboembolismo). | |||
| description / en | description / en | ||
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). | |||
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 |
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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). |
