About: 5' 10' Methylenetetrahydrofolate Reductase Deficiency     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • 5' 10' Methylenetetrahydrofolate Reductase Deficiency
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • 5' 10' Methylenetetrahydrofolate Reductase Deficiency
UMLS_CUI
  • C0268615
Contributing_Source
  • NICHD
ALT_DEFINITION
  • 5,10-Methylenetetrahydrofolate reductase deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. NICHD
FULL_SYN
  • 5' 10' Methylenetetrahydrofolate Reductase DeficiencyPTNCI
  • 5,10-Methylenetetrahydrofolate Reductase DeficiencyPTNICHD
  • MTHFRABNCI
  • 5' 10' Methylenetetrahydrofolate Reductase Deficiency (MTHFR)SYNCI
DEFINITION
  • A rare disorder associated with mental retardation, spasticity, and early death.NCI
code
  • C84524
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