Hyperhomocysteinemia

Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.

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Hyperhomocysteinemias

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperhomocysteinemia: 3840
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperhomocysteinemia: 3840
  - Malabsorption Syndromes: 644
    - Hyperhomocysteinemia: 3840
- Nutrition Disorders: 417
  - Malnutrition: 20982
    - Deficiency Diseases: 518
      - Avitaminosis: 1321
        Vitamin B Deficiency: 66
        Hyperhomocysteinemia: 3840

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