maple syrup urine disease (mild)
Last reviewed 01/2018
Children affected by this condition develop milder disease after the neonatal period.
Features include:
- mildly to moderately mentally retarded.
- increased levels of leucine, isoleucine and valine in the blood
- excretion of ketoacids of these amino acids in the urine
- diagnosis occurs during an intercurrent illness when clinical features such as vomiting, hypertonicity, muscular rigidity, odour of maple syrup in urine.