August 24, 2016
font size

Definition of Disease, maple syrup urine

Disease, maple syrup urine: 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 syrup urine disease (MSUD) causes mental retardation, physical disability and death.

MSUD is a component of many newborn screening programs. Treatment involves a special diet and monitoring of protein intake. The special diet lacks the three branched-chain amino acids: which are then added back to provide the protein needed for normal growth and development. Close medical care is critical because even mild illnesses can become life-threatening and require hospitalization.

Source: MedTerms™ Medical Dictionary
Last Editorial Review: 6/14/2012

Drug Medical Dictionary of Terms by Letter

Top RxList Drug News

Women's Health

Find out what women really need.

Use Pill Finder Find it Now See Interactions

Pill Identifier on RxList

  • quick, easy,
    pill identification

Find a Local Pharmacy

  • including 24 hour, pharmacies

Interaction Checker

  • Check potential drug interactions
Search the Medical Dictionary for Health Definitions & Medical Abbreviations