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Results 1 - 8 of 8 for Cystinosis
  1. Cystinosis 
    Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) ... be affected.There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic ...
    https://medlineplus.gov/genetics/condition/cystinosis - Genetics
  2. CTNS gene 
    ... 80 different mutations that are responsible for causing cystinosis have been identified in the CTNS gene. The ... deletion is responsible for approximately 50 percent of cystinosis cases in people of European descent. Other mutations ...
    https://medlineplus.gov/genetics/gene/ctns - Genetics
  3. Patient support and advocacy groups 
    ... Canada Cystic Fibrosis Foundation Cystic Fibrosis Research Inc. Cystinosis Research Foundation Cystinosis Research Network Cystinuria Support Network ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  4. Fanconi syndrome 
    ... to break down certain compounds such as: Cystine (cystinosis) Fructose ( fructose intolerance ) Galactose ( galactosemia ) Glycogen (glycogen storage ...
    https://medlineplus.gov/ency/article/000333.htm - Medical Encyclopedia
  5. Renal Tubular Acidosis From the National Institutes of Health (National Institute of Diabetes and Digestive and Kidney Diseases)  
    ... irregular heartbeat, paralysis, abdominal pain, fatigue, muscle weakness, cystinosis, hereditary fructose intolerance, Wilson disease, electrolytes, ACE inhibitors, ...
    https://www.niddk.nih.gov/.../kidney-disease/renal-tubular-acidosis - External Health Links
  6. Kidney Diseases (National Library of Medicine)  
    You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about ...
    https://medlineplus.gov/kidneydiseases.html - Health Topics
  7. Proximal renal tubular acidosis 
    ... by itself. Causes of type II RTA include: Cystinosis (body is unable to break down the substance ...
    https://medlineplus.gov/ency/article/000497.htm - Medical Encyclopedia
  8. Aminoaciduria 
    ... acids may be due to: Alkaptonuria Canavan disease Cystinosis Cystathioninuria Fructose intolerance Galactosemia Hartnup disease Homocystinuria Hyperammonemia ...
    https://medlineplus.gov/ency/article/003366.htm - Medical Encyclopedia