Homocystinuria

Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

Also Known As:

Cystathionine Beta Synthase Deficiency; Deficiency Disease, Cystathionine beta-Synthase; CBS Deficiencies; Cystathionine beta Synthase Deficiency Disease; Deficiencies, CBS; Deficiency Disease, Cystathionine beta Synthase; Deficiency, CBS; CBS Deficiency; Cystathionine beta-Synthase Deficiency Disease

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Homocystinuria: 1129
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Homocystinuria: 1129
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperhomocysteinemia: 3840
        Homocystinuria: 1129
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3325
  - Homocystinuria: 1129
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Homocystinuria: 1129
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperhomocysteinemia: 3840
        Homocystinuria: 1129
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Homocystinuria: 1129

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