Homocystinuria due to methylene tetrahydrofolate reductase deficiency
ORPHA:395· ICD-10 E72.1
Definition
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal