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

Visits:

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

Eligibility:

• Check inclusion/exclusion criteria
• Written informed consent