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. ==Causes== MSUD is a metabolic disorder caused by a deficiency of ....
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http://en.wikipedia.org/wiki/Maple_syrup_urine_disease
inherited metabolic disorder involving leucine, isoleucine, and valine (a group of branch chain amino acids). Normally, these amino acids are ... [2 related articles]
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http://www.britannica.com/eb/a-z/m/30
Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterised by urine that smells like maple syrup. ... (12 Dec 1998) ...
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http://www.encyclo.co.uk/local/20973
a genetic disorder involving deficiency of an enzyme necessary in the metabolism of branched-chain amino acids, marked clinically by mental and physical retardation, feeding difficulties, and a characteristic odor of the urine.
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http://www.encyclo.co.uk/local/21001
Type: Term Definitions: 1. an inborn error of metabolism caused by defective oxidative decarboxylation of α-keto acids of leucine, isoleucine, and valine; these branched-chain amino acids are present in the blood and urine in high concentrations; manifestations of disease include feeding difficulties, physical and mental retardation, and a uri...
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http://www.medilexicon.com/medicaldictionary.php?t=25639
Maple syrup urine disease: Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup. The three branched-chain amino acids: (leucine, isoleucine, and valine) cannot be metabolized (processed) and build up in the blood to the detriment of brain function. Untreated maple s...
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http://www.medterms.com/script/main/art.asp?articlekey=4278
[
n] - an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup
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http://www.webdictionary.co.uk/definition.php?query=maple%20syrup%20urine%2
branched chain ketoaciduria noun an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
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https://www.encyclo.co.uk/local/20974
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