has material basis in germline mutation in MTHFR homocystinuria homocystinuria due to methylene tetrahydrofolate reductase deficiency https://www.malacards.org/card/homocystinuria_due_to_deficiency_of_n_methylenetetrahydrofolate_reductase_activity 5,10-alpha-methylenetetrahydro-folate reductase deficiency OMIM:236250 methylene tetrahydrofolate reductase deficiency Homocysteinemia due to methylenetetrahydro-folate reductase deficiency MESH:C537357 homocystinuria due to methylene tetrahydrofolate reductase deficiency 5,10 alpha methylenetetrahydro-folate reductase deficiency MTHFR deficiency NANDO:1201041 SCTID:41797007 Methylenetetrahydro-folate reductase deficiency GARD:0002734 UMLS:C1856061 Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations. Homocysteinuria due to methylenetetrahydro-folate reductase deficiency MEDGEN:343470 MONDO:0009353 Orphanet:395 homocystinuria due to MTHFR deficiency disorder of folate metabolism and transport hereditary peripheral neuropathy