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Results 1 - 10 of 17 for Maple syrup urine disease
  1. Maple syrup urine disease 
    Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  2. Maple syrup urine disease 
    Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The ... Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a ...
    https://medlineplus.gov/ency/article/000373.htm - Medical Encyclopedia
  3. Amino Acid Metabolism Disorders (National Library of Medicine)  
    ... acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together ...
    https://medlineplus.gov/aminoacidmetabolismdisorders.html - Health Topics
  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. DBT gene 
    ... DBT gene have been identified in people with maple syrup urine disease, most often in individuals with mild variants of ... delay and the other health problems associated with maple syrup urine disease. More About This Health Condition BCATE2 dihydrolipoamide branched ...
    https://medlineplus.gov/genetics/gene/dbt - Genetics
  6. BCKDHB gene 
    ... BCKDHB gene have been identified in people with maple syrup urine disease. These mutations most often cause the severe, classic ... the disorder, which becomes apparent soon after birth. Maple syrup urine disease gets its name from the distinctive sweet odor ...
    https://medlineplus.gov/genetics/gene/bckdhb - Genetics
  7. Maple Syrup Urine Disease (For Parents) (Nemours Foundation)  
    Amino Acid Metabolism Disorders/Children ... Amino Acid Metabolism Disorders ... Genetic Brain Disorders/Children ... Genetic Brain Disorders ... Nemours Foundation
    https://kidshealth.org/en/parents/msud.html - External Health Links
  8. BCKDHA gene 
    ... BCKDHA gene have been identified in people with maple syrup urine disease. These mutations most often cause the severe, classic ... the disorder, which becomes apparent soon after birth. Maple syrup urine disease gets its name from the distinctive sweet odor ...
    https://medlineplus.gov/genetics/gene/bckdha - Genetics
  9. Opisthotonos 
    ... as glutaric aciduria and organic acidemias, Krabbe disease , maple syrup urine disease , and others Seizures Severe electrolyte imbalance Traumatic brain ...
    https://medlineplus.gov/ency/article/003195.htm - Medical Encyclopedia
  10. Aminoaciduria 
    ... Fructose intolerance Galactosemia Hartnup disease Homocystinuria Hyperammonemia Hyperparathyroidism Maple syrup urine disease Methylmalonic acidemia Multiple myeloma Ornithine transcarbamylase deficiency Osteomalacia ...
    https://medlineplus.gov/ency/article/003366.htm - Medical Encyclopedia
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