About: 5' 10' Methylenetetrahydrofolate Reductase Deficiency

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

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Attributes	Values
rdf:type	Class
rdfs:label	5' 10' Methylenetetrahydrofolate Reductase Deficiency
rdfs:subClassOf	Metabolic Diseases Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Enzyme Deficiency Autosomal Recessive Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
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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