Homocystinuria due to methylene tetrahydrofolate reductase deficiency

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Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Synonyms: MTHFR deficiency | Methylene tetrahydrofolate reductase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Homocystinuria due to methylene tetrahydrofolate reductase deficiency?

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