Filipino maple syrup urine disease
Maple syrup urine disease (MSUD). As the name implies, the urine has the characteristic smell of maple syrup. Unfortunately, that’s about the good thing about this disorder.
Maple Syrup Urine Disease is a disorder in the body’s ability to use three of the essential amino acids in protein.
The disorder presents itself upon birth diagnosis can be made immediately to find out if a newborn has the disease. In infants with intermediate (a type of) MSUD, symptoms are milder and may not be apparent as soon. Symptoms include fussiness, lethargy, decreased nursing/feeding, poor weight gain, hypotonia (poor muscle tone) or …read more
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