Guidelines and recommendations

Developing and updating guidelines and consensus care protocols for the homocystinurias, methylation and folate disorders is one of the main objectives of E-HOD. Guidelines were developed based on the evidence published in the literature, knowledge gained from the registry, and expert experience. It is foreseen that the guidelines will be updated regularly to reflect progress in diagnosis and treatment. For more information on the guideline development, please contact the guideline group lead: Carlo Dionisi-Vici.

These guidelines are now available:

1. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
2. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
3. Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
4. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines