Guidelines and recommendations

Developing guidelines and consensus care protocols for the homocystinurias, methylation and folate disorders was one of main objectives for E-HOD. This activity has been broken down into four working groups:

  1. CBS deficiency
  2. MTHFR deficiency and cobalamin defects
  3. Other homocystinurias or methylation defects
  4. Newborn screening

Guidelines were developed using various sources of information such as current guidelines, knowledge gained from the registry, experience and international literature search. For more information on the guideline development, please contact the guideline group lead: Carlo Dionisi-Vici.