Guidelines and recommendations

  • 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.

  • Guidelines on homocystinurias and methylation defects

     A harmonized approach to diagnosis and management

    JIMD Editorial by Eva Morava

    Inborn errors of metabolism of homocysteine, folate, cobalamin, and methylation belong to the most intriguing metabolic disorders and link metabolism to organ- and neurodevelopment and regulation of gene expression on levels we are just beginning to understand. The European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) consortium created three excellent state-of-the-art recommendation papers reviewing clinical spectrum, diagnosis, and treatment of this group of disorders (see Huemer et al., 2016, Barić et al., 2016, and Morris et al., 2016 this issue).

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