Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Definition
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.
Also known as homocystinuria due to methylene tetrahydrofolate reductase deficiency, methylene tetrahydrofolate reductase deficiency, MTHFR deficiency — per MONDO