Definitions for maple syrup urine disease
maple syrup urine dis·ease

Princeton's WordNetRate this definition:0.0 / 0 votes

1. maple syrup urine disease, branched chain ketoacidurianoun

   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

WikipediaRate this definition:0.0 / 0 votes

1. Maple syrup urine disease

   Maple syrup urine disease (MSUD) 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 and earwax, particularly prior to diagnosis and during times of acute illness.

ChatGPTRate this definition:0.0 / 0 votes

1. maple syrup urine disease

   Maple Syrup Urine Disease (MSUD) is a rare, inherited metabolic disorder in which the body is unable to breakdown certain parts of proteins called branched-chain amino acids (specifically, leucine, isoleucine, and valine). The inability to metabolize these amino acids leads to their accumulation in the body, resulting in a variety of health-related issues. The disease is named for the distinctive sweet odor of the urine in affected individuals. Symptoms of the disease usually appear in early infancy and include poor feeding, vomiting, lethargy, and developmental delay. If left untreated, the disease can lead to severe brain damage and death.

WikidataRate this definition:0.0 / 0 votes

1. Maple syrup urine disease

   Maple syrup urine disease, 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.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Maple Syrup Urine Disease

   An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)

Matched Categories

1. • Genetic Disease
   • Ketonuria

How to pronounce maple syrup urine disease?

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Numerology

1. Chaldean Numerology

   The numerical value of maple syrup urine disease in Chaldean Numerology is: 1

2. Pythagorean Numerology

   The numerical value of maple syrup urine disease in Pythagorean Numerology is: 5

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=maple syrup urine disease
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Maple_Syrup_Urine_Disease
3. ^ ChatGPT
   https://chat.openai.com
4. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=maple syrup urine disease