This patient registry arises from the project E-HOD
which has received funding
from the European Union,
in the framework of the
Health Programme 2008-2013
EAHC Health Programme
About EHOD

E-HOD – Patient registry

Major aims of the study:

  1. To describe the natural history and outcome of homocystinurias and methylation defects
    • Long-term organ-specific complications: vascular system, eye, brain, bones, liver, kidneys, pancreas
    • Acute metabolic crisis (in some Cbl defects)
    • Survival rate
    • Genotype/phenotype correlation
    • Differences in the disease course relating to the genetic background / ethnic origin/ gender effects
  2. To describe and evaluate the efficacy and safety of current treatment strategies
  3. To compare the diagnosis, treatment and management of affected individuals in different European countries. Included is the evaluation of the different newborn screening programmes.
  4. To identify the major impact of an rare inherited disease for patients and their families regarding quality of life, school education, professional career and social life

Patients with any of the following homocystinurias and methylation defects could be included:

  1. Classical homocystinuria / cysthathionine beta-synthase (CBS) deficiency
  2. Methylenetetrahydrofolate reductase (MTHFR) deficiency
  3. Cobalamin C (CblC) deficiency
  4. Cobalamin D (CblD) deficiency
  5. Methionine synthase reductase (CblE) deficiency
  6. Cobalamin F (CblF) deficiency
  7. Methionine synthase (CblG) deficiency
  8. Cobalamin J (CblJ) deficiency
  9. Methionine adenosyltransferase I/III (MAT) deficiency
  10. Glycine N-methyltransferase (GNMT) deficiency
  11. S-Adenosylhomocysteine hydrolase (SAHH) deficiency
  12. Adenosine kinase (ADK) deficiency
  13. Methylenetetrahydrofolate dehydrogenase (MTHF) deficiency
  14. Glutamate formiminotransferase (FTC) deficiency
  15. Intestinal folate carrier 1 (IFC) deficiency


  1. Baseline visit: once at the beginning
  2. Regular visits: at least once yearly
  3. Emergency (or other unscheduled) visit: unscheduled


  • Check inclusion/exclusion criteria
  • Written informed consent

© EHOD 2012-2024