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5,10-Methylenetetrahydrofolate reductase deficiency

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: 5' 10' Methylenetetrahydrofolate Reductase Deficiency; 5' 10' Methylenetetrahydrofolate Reductase Deficiency (MTHFR); Methylenetetrahydrofolate reductase deficiency
SNOMED CT: Methylenetetrahydrofolate reductase deficiency (41797007); 5,10-Methylenetetrahydrofolate reductase deficiency (41797007)


A rare disorder associated with mental retardation, spasticity, and early death. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV5,10-Methylenetetrahydrofolate reductase deficiency

Professional guidelines


Sakura N, Ono H, Nomura S, Ueda H, Fujita N
J Inherit Metab Dis 1998 Feb;21(1):84-5. doi: 10.1023/a:1005331902497. PMID: 9501279

Recent clinical studies


Perna A, Masciullo M, Modoni A, Cellini E, Parrini E, Ricci E, Donati AM, Silvestri G
Eur J Neurol 2018 Mar;25(3):602-605. Epub 2018 Jan 30 doi: 10.1111/ene.13557. PMID: 29284203

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