European Network and Registry
for Homocystinurias and Methylation Defects

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  • Guidelines for Cystathionine beta-synthase (CBS) deficiency

    Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine.  In contrast, mildly affected patients are more likely to present as adults with thromboembolism and to respond to treatment with pyridoxine.

    20.06. 2016
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