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)

https://onlinelibrary.wiley.com/doi/full/10.1007/s10545-016-9979-0

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

https://onlinelibrary.wiley.com/doi/full/10.1007/s10545-016-9991-4

3. Methylation disorders

https://onlinelibrary.wiley.com/doi/full/10.1007/s10545-016-9972-7

4. Newborn screening for the homocystinurias

https://onlinelibrary.wiley.com/doi/full/10.1007/s10545-015-9830-z