Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine.
Other articles related to "maple syrup urine disease":
... Maple syrup urine disease affects approximately 1 out of 180,000 infants ... Mutations in the following genes cause maple syrup urine disease BCKDHA (Online 'Mendelian Inheritance in Man' (OMIM) 608348) BCKDHB (Online 'Mendelian ... organs, this accumulation leads to the serious medical problems associated with maple syrup urine disease ...
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