Homocystinuria due to methylenetetrahydrofolate reductase deficiency (Q84173): Difference between revisions
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Homocistinúria por deficiência de metileno tetrahidrofolato redutase (MTHFR) é um distúrbio do metabolismo do folato caracterizado por manifestações neurológicas que aparecem no primeiro ano de vida com sinais neurológicos graves, apneia recorrente, microcefalia e convulsões, e sem anemia megaloblástica. | |||
| description / en | description / en | ||
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. | |||
Revision as of 09:32, 15 August 2026
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 |
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| 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. |
