Maple syrup urine disease | |
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Other names | Branched-chain ketoaciduria |
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Leucine (pictured above), Isoleucine, and valine are the branched-chain amino acids that build up in MSUD. | |
Specialty | Medical genetics |
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 and earwax, particularly prior to diagnosis and during times of acute illness.[3] It was described by John Menkes in the 1950s.[4]
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