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Results 1 - 10 of 10 for Creatine "deficiency," "X-linked"
  1. ... definitions Reviewed June 2011 What is X-linked creatine deficiency? X-linked creatine deficiency is an inherited disorder that primarily ... of the face (midface hypoplasia). How common is X-linked creatine deficiency? The prevalence of X-linked creatine deficiency is ...
  2. Genetics Home Reference: Seizures From the National Institutes of Health (National Library of Medicine)  
    ... epilepsy sepiapterin reductase deficiency sialidosis succinic semialdehyde dehydrogenase deficiency X-linked creatine deficiency You may also search Genetics Home Reference ...
  3. 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. ...
  4. 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 ...
  5. Metabolic Diseases of Muscle (Muscular Dystrophy Association) - PDF  
    ... the person usually experiences no symptoms. Phosphoglycerate kinase deficiency Also called: Glycogenosis type 9 Onset: Infancy to early adulthood Inheritance: X-linked recessive Symptoms: May cause anemia, enlargement of the ...
  6. Muscle Disorders (National Library of Medicine)  
    Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle ...
  7. Muscular Dystrophy: Hope Through Research From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... four dystrophin-glycoprotein complex proteins called the sarcoglycans. ... increased levels of serum creatine kinase. The dominant LGMDs usually begin in adulthood. ...
  8. Spinal Muscular Atrophy (SMA) (Muscular Dystrophy Association) - PDF  
    ... chemicals are under consideration. Also being studied is creatine , a substance that may help muscle or nerve ...
  9. Duchenne and Becker Muscular Dystrophies (Muscular Dystrophy Association) - PDF  
    ... test called a CK level . CK stands for creatine kinase , an enzyme that leaks out of damaged ... Both DMD and BMD are inherited in an X-linked pattern. That means the gene that sometimes contains ...
  10. ... test called a CK level. CK stands for creatine kinase, an enzyme that leaks out of damaged ... common form of EDMD is inherited in an X-linked pattern, but EDMD also can be inherited in ...