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 about every 5 years 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. CBS deficiency (classical homocystinuria)

  1. MTHFR deficiency and cobalamin-related remethylation disorders (including cblC disease)

  1. Methylation disorders

  1. Newborn screening for the homocystinurias

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).