5,10-Methylenetetrahydrofolate reductase deficiency

MedGen UID:: 82824
•Concept ID:: C0268615
•: 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)

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGV5,10-Methylenetetrahydrofolate reductase deficiency

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Metabolic disease
        5,10-Methylenetetrahydrofolate reductase deficiency

Professional guidelines

PubMed

Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

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

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Recent clinical studies

Diagnosis

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

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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5,10-Methylenetetrahydrofolate reductase deficiency

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Diagnosis

Supplemental Content

Table of contents

Practice guidelines

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