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Results 1 - 10 of 13 for "Hypoxanthine-guanine" phosphoribosyltransferase deficiency
  1. Lesch-Nyhan syndrome 
    ... Choreoathetosis self-mutilation syndrome Complete HPRT deficiency Complete hypoxanthine-guanine phosphoribosyltransferase deficiency Deficiency of guanine phosphoribosyltransferase Deficiency of hypoxanthine phosphoribosyltransferase ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  2. Lesch-Nyhan syndrome 
    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. ...
    https://medlineplus.gov/ency/article/001655.htm - Medical Encyclopedia
  3. HPRT1 gene 
    ... Buno AS, O'Neill P. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 ...
    https://medlineplus.gov/genetics/gene/hprt1 - Genetics
  4. 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. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  5. 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 ...
    https://medlineplus.gov/metabolicdisorders.html - Health Topics
  6. 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 ...
    https://medlineplus.gov/aminoacidmetabolismdisorders.html - Health Topics
  7. Uric Acid Test: MedlinePlus Medical Test 
    ... body Obesity An inherited genetic condition , such as Lesch-Nyhan syndrome , that makes it hard for your body to ...
    https://medlineplus.gov/lab-tests/uric-acid-test - Medical Tests
  8. Uric acid urine test 
    ... to: Body not being able to process purine ( Lesch-Nyhan syndrome ) Certain cancers that have spread (metastasized) Disease that ...
    https://medlineplus.gov/ency/article/003616.htm - Medical Encyclopedia
  9. lesch-nyhan-syndrome From the National Institutes of Health 
    From the National Institutes of Health
    https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome - National Institutes of Health
  10. Mycophenolate 
    ... doctor if you have or have ever had Lesch-Nyhan syndrome or Kelley-Seegmiller syndrome (inherited diseases that cause ...
    https://medlineplus.gov/druginfo/meds/a601081.html - Drugs and Supplements
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