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Results 1 - 10 of 17 for Maple syrup urine disease
  1. ... lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.Maple ...
  2. Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The ... you have a newborn who has symptoms of maple syrup urine disease.
  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 ...
  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. ...
  5. ... 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 ...
  6. ... delay, and the other health problems associated with maple syrup urine disease. More About This Health Condition 2-oxoisovalerate dehydrogenase ... branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) ODBB_HUMAN Tests of BCKDHB PubMed BRANCHED-CHAIN ...
  7. Nemours Foundation
  8. ... complex. In the Old Order Mennonite population, where maple syrup urine disease occurs frequently, the most common mutation replaces the ... delay, and the other health problems associated with maple syrup urine disease. More About This Health Condition BCKDE1A BCKDH E1- ...
  9. ... as glutaric aciduria and organic acidemias, Krabbe disease , maple syrup urine disease , and others Seizures Severe electrolyte imbalance Traumatic brain ...
  10. ... Fructose intolerance Galactosemia Hartnup disease Homocystinuria Hyperammonemia Hyperparathyroidism Maple syrup urine disease Methylmalonic acidemia Multiple myeloma Ornithine transcarbamylase deficiency Osteomalacia ...
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