Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity (MTHFRD)

Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity, also known as methylenetetrahydrofolate reductase deficiency, is related to hyperhomocysteinemia and homocysteinemia, and has symptoms including seizures, muscle weakness and muscle spasticity. An important gene associated with Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and One-carbon metabolism and related pathways. Affiliated tissues include spinal cord and brain, and related phenotypes are gait disturbance and upper motor neuron dysfunction