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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. Genetic brain disorders affect the development and function of the brain.

Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.

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Results 1 - 10 of 118 for Maple syrup urine disease
  1. 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 ... A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain. ...
  2. Genetics Home Reference: Maple syrup urine disease From the National Institutes of Health (National Library of Medicine)  
    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Maple syrup urine disease On this page: Description Genetic changes Inheritance Diagnosis ...
  3. Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down ... Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the amino ...
  4. ClinicalTrials.gov: Maple Syrup Urine Disease From the National Institutes of Health (National Institutes of Health)  
  5. Newborn Screening Tests (Nemours Foundation)  
    ... manages the condition. Incidence: 1 in 12,000. Maple Syrup Urine Disease (MSUD) Babies with MSUD are missing an enzyme needed to process three amino acids that are essential for the body's normal ... to smell like maple syrup or sweet, burnt sugar. These babies usually ...
  6. ... Methodist University Hospital, Memphis, TN, 10/28/2004) Genetic Brain Disorders Treating Moyamoya Disease (Children's Hospital Boston, Boston, MA, ... Children's Hospital Boston, Boston, MA, 10/05/2007) Genetic Brain Disorders Treating Moyamoya Disease (Children's Hospital Boston, Boston, MA, ...
  7. Bloom's Syndrome (Chicago Center for Jewish Genetic Disorders)  
    ... I Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline Myopathy Niemann- ... I Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline Myopathy Niemann- ...
  8. ... certain types of genetic diseases including Leigh's disease, maple syrup urine disease, and others.Preventing kidney disease in people with ...
  9. ... Fructose intolerance Galactosemia Hartnup disease Homocystinuria Hyperammonemia Hyperparathyroidism Maple syrup urine disease Methylmalonic acidemia Multiple myeloma Ornithine transcarbamylase deficiency Osteomalacia ...
  10. G6PD Deficiency (Chicago Center for Jewish Genetic Disorders)  
    ... I Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline Myopathy Niemann- ...
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