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.
This guideline will soon be published in the Journal of Intherited Metabolic Diseases and may contribute to the harmonisation of diagnosis, treatment and management in this group of rare disorders.