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Medical condition / From Wikipedia, the free encyclopedia
Maple syrup urine disease (MSUD) is an autosomal recessive[1] metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.[2] The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis, and during times of acute illness.[3]
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Quick Facts Maple Syrup Urine Disease, Other names ...
Maple Syrup Urine Disease | |
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Other names | Branched-chain ketoaciduria |
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Isoleucine (pictured above), leucine, and valine are the branched-chain amino acids that build up in MSUD. | |
Specialty | Medical genetics |
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