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: 14178
- Neurologic Manifestations: 7102
  - Neuromuscular Manifestations: 23
    - Muscle Hypertonia: 183
      - Muscle Spasticity: 3127
        Methylenetetrahydrofolate reductase deficiency: 174
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Homocystinuria: 1117
        Methylenetetrahydrofolate reductase deficiency: 174
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Homocystinuria: 1117
        Methylenetetrahydrofolate reductase deficiency: 174
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperhomocysteinemia: 3797
        Homocystinuria: 1117
        Methylenetetrahydrofolate reductase deficiency: 174
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Homocystinuria: 1117
    - Methylenetetrahydrofolate reductase deficiency: 174
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Homocystinuria: 1117
        Methylenetetrahydrofolate reductase deficiency: 174
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperhomocysteinemia: 3797
        Homocystinuria: 1117
        Methylenetetrahydrofolate reductase deficiency: 174
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Homocystinuria: 1117
        Methylenetetrahydrofolate reductase deficiency: 174
Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Muscle Spasticity: 3127
    - Methylenetetrahydrofolate reductase deficiency: 174
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neuromuscular Manifestations: 23
      - Muscle Hypertonia: 183
        Muscle Spasticity: 3127
        Methylenetetrahydrofolate reductase deficiency: 174
Mental Disorders: 24177
- Schizophrenia Spectrum and Other Psychotic Disorders: 9
  - Psychotic Disorders: 19788
    - Methylenetetrahydrofolate reductase deficiency: 174
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Oxidoreductases: 13671
    - Oxidoreductases Acting on CH-NH Group Donors
      - Methylenetetrahydrofolate Reductase (NADPH2): 2826
        Methylenetetrahydrofolate reductase deficiency: 174
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Flavoproteins: 234
    - Methylenetetrahydrofolate Reductase (NADPH2): 2826
      - Methylenetetrahydrofolate reductase deficiency: 174

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