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Homocystinuria due to methylene tetrahydrofolate reductase deficiency

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Name:
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Description:
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
ORPHAcode:
395
Synonyms:
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
MTHFR
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14