E-HOD Projects

E-HOD consortium supports development of guidelines/recommendations and research activities in the field of homocystinurias, and methylation and remethylation disorders.

Completed project

  1. Newborn screening for homocystinurias: Recent recommendations versus current practice


  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry


  1. Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency (publication in press)


Ongoing projects

  1. CBS natural history study of 328 patients from the E-HOD registry

First/communicating authors: V.Kožich and M.Huemer

Status: manuscript under review in JIMD

How to start a new project

To start a new E-HOD project, you have to be a member of the E-HOD consortium. Applications for new projects require filling the form that can be downloaded here and sent to the Chairperson of the Scientific Board - Ivo Baric. The application is evaluated for feasibility and soundness by the SB and the applicants are informed within about 2 months following application.

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).