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. It was described by John Menkes in the 1950s.
Signs and symptoms
The disease is named for the presence of sweet-smelling urine, similar to maple syrup, when the person goes into metabolic crisis. The smell is also detected in ear wax of an affected individual during metabolic crisis. In populations to whom maple syrup is unfamiliar, the aroma can be likened to fenugreek, and fenugreek ingestion may impart the aroma to urine.
Symptoms of MSUD varies between patients and is greatly related to the amount of residual enzyme activity.
Classic MSUD
Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The...
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