Sulfite oxidase deficiency

An autosomal recessive metabolic disorder caused by mutations in the SUOX gene (sulfite oxidase). Findings may include ECTOPIA LENTIS; ECZEMA; HEMIPLEGIA; MUSCLE HYPOTONIA or MUSCLE HYPERTONIA; SEIZURES; ATAXIA and DEVELOPMENTAL DISABILITIES. It is characterized by increased urinary sulfite and decreased urinary sulfate and may be lethal in infancy. OMIM: 272300

Also Known As:

Sulfocysteinuria

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Sulfite oxidase deficiency: 66
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Sulfite oxidase deficiency: 66
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Oxidoreductases: 13671
    - Oxidoreductases Acting on Sulfur Group Donors: 5
      - Sulfite Oxidase: 93
        Sulfite oxidase deficiency: 66

M A Sabry Selected Research

M A Sabry Research Topics

Disease

Drug/Important Bio-Agent (IBA)