Homocystinuria due to methylenetetrahydrofolate reductase deficiency (Q84173)
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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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1119975297 |
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| English | Homocystinuria due to methylenetetrahydrofolate reductase deficiency |
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. |
Statements
CID11:ID_1119975297
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