Methylenetetrahydrofolate reductase deficiency

A common hereditary defect of folate metabolism due to autosomal recessive mutations in the MTHFR gene. The phenotypic spectrum ranges from severe neurologic deterioration (DEVELOPMENTAL DELAY; SEIZURES; ATAXIA; STROKE) and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified. OMIM: 236250

Also Known As:

MTHFR deficiency

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neuromuscular Manifestations: 24
    - Muscle Hypertonia: 185
      - Muscle Spasticity: 3189
        Methylenetetrahydrofolate reductase deficiency: 178
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Homocystinuria: 1129
        Methylenetetrahydrofolate reductase deficiency: 178
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Homocystinuria: 1129
        Methylenetetrahydrofolate reductase deficiency: 178
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperhomocysteinemia: 3840
        Homocystinuria: 1129
        Methylenetetrahydrofolate reductase deficiency: 178
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3325
  - Homocystinuria: 1129
    - Methylenetetrahydrofolate reductase deficiency: 178
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Homocystinuria: 1129
        Methylenetetrahydrofolate reductase deficiency: 178
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperhomocysteinemia: 3840
        Homocystinuria: 1129
        Methylenetetrahydrofolate reductase deficiency: 178
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Homocystinuria: 1129
        Methylenetetrahydrofolate reductase deficiency: 178
Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Muscle Spasticity: 3189
    - Methylenetetrahydrofolate reductase deficiency: 178
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Neuromuscular Manifestations: 24
      - Muscle Hypertonia: 185
        Muscle Spasticity: 3189
        Methylenetetrahydrofolate reductase deficiency: 178
Mental Disorders: 25040
- Schizophrenia Spectrum and Other Psychotic Disorders: 9
  - Psychotic Disorders: 20254
    - Methylenetetrahydrofolate reductase deficiency: 178
Enzymes and Coenzymes: 1
- Enzymes: 155591
  - Oxidoreductases: 13899
    - Oxidoreductases Acting on CH-NH Group Donors
      - Methylenetetrahydrofolate Reductase (NADPH2): 2855
        Methylenetetrahydrofolate reductase deficiency: 178
Amino Acids, Peptides, and Proteins: 1
- Proteins: 496323
  - Flavoproteins: 240
    - Methylenetetrahydrofolate Reductase (NADPH2): 2855
      - Methylenetetrahydrofolate reductase deficiency: 178

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Disease

Drug/Important Bio-Agent (IBA)