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Results 1 - 10 of 14 for "Hypoxanthine-guanine" phosphoribosyltransferase deficiency
  1. ... Choreoathetosis self-mutilation syndrome Complete HPRT deficiency Complete hypoxanthine-guanine phosphoribosyltransferase deficiency Deficiency of guanine phosphoribosyltransferase Deficiency of hypoxanthine phosphoribosyltransferase ...
  2. Lesch-Nyhan syndrome is a disorder that is passed down through families (inherited). It affects how the body builds ... Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait . It occurs mostly in boys. ...
  3. Lesch-Nyhan Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase ( ...
  4. ... Buno AS, O'Neill P. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 ...
  5. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
  6. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
  7. Amino Acid Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks ...
  8. ... body Obesity An inherited genetic condition , such as Lesch-Nyhan syndrome , that makes it hard for your body to ...
  9. ... to: Body not being able to process purine ( Lesch-Nyhan syndrome ) Certain cancers that have spread (metastasized) Disease that ...
  10. Gout From the National Institutes of Health (National Institute of Arthritis and Musculoskeletal and Skin Diseases)  
    National Institute of Arthritis and Musculoskeletal and Skin Diseases ... From the National Institutes of Health ... Gout is a kind of arthritis causing painful & ...
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