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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. Maple Syrup Urine Disease (For Parents) (Nemours Foundation)  
    Maple Syrup Urine Disease ... Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with.
    https://kidshealth.org/en/parents/msud.html - External Health Links
  4. 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
  5. 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
  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. 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
  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. Newborn Screening Tests (Nemours Foundation)  
    ... sickle cell anemia, biotinidase deficiency, congenital adrenal hyperplasia, maple syrup urine disease, msud, homocystinuria, cysitc fibrosis, toxoplasmosis, tyrosinemia, CD1Neonatology, CD1Primary ...
    https://kidshealth.org/en/parents/newborn-screening-tests.html - External Health Links
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