Maple Syrup Urine Disease
Maple Syrup Urine Disease (MSUD) is also one of the diseases tested in the Newborn Screening test. Also known as Menke’s Disease and Branched-chain Amino -aciduria). This is an autosomal recessive disorder and is due to a defect in oxidative decarboxylation of branched-chain amino acids leucine, isoleucine and valine.
Clinically, affected patients will have the following manifestations:
– the urine has the odor of maple syrup and this is secondary to the branched hydroxy acids
– there is poor feeding
– spasticity which will be clearly seen on or about the fifth day of life that may lead to convulsions
– the newborn will have failure to thrive, hypoglycemia and severe neurologic abnormalities
– if untreated, this condition may lead to severe retardation and or death
The treatment of this disease consists of a diet restricting leucine, isoleucine and valine which must be started early and on the first day of life to be effective since prognosis is guarded. This is one reason why we advocate all pregnant women to have a good prenatal care since antenatal diagnosis is possible by examination of the amniotic fluid cell cultures.