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

This is E-HOD

European network and registry for homocystinurias and methylation defects. Its aim is to improve the health of children, adolescents and adults affected with these rare disorders.
E-HOD has been funded by the European Commission through its Public Health and Consumer Protection Directorate (DG SANCO), PHEA programme (more information).