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Results 1 - 10 of 17 for Intermittent maple syrup urine disease
  1. 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 ...
  2. Maple Syrup Urine Disease ... Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with.
  3. 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 ...
  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 ...
  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. ...
  6. ... 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 ...
  7. ... 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 ...
  8. ... 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 ...
  9. 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 ...
  10. Newborn Screening (National Library of Medicine)  
    Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include: Tests ...
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