Maple syrup urine disease (mild)
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.
Create an account to add page annotations
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page