Catalog

Homocystinuria due to methylenetetrahydrofolate reductase deficiency

No MMS code

Link to WHO Definition

Homocystinuria due to methylenetetrahydrofolate reductase deficiency – http://id.who.int/icd/entity/1119975297

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a disorder of folate metabolism characterised by neurological manifestations appearing in the first year of life with severe neurological signs, recurrent apnoea, microcephaly and convulsions, and no megaloblastic anaemia.