Maple Syrup
Urine Disease
It is also known
as branched-chain ketoaciduria. It is an autosomal recessive metabolic disease.
SYMPTOMS:
- It is characterised be sweet smelling urine which has a smell similar to the smell of maple syrup.
- Even the ear wax has the same smell. May prompt extreme cerebrum harm if left untreated.
- Some symptoms are vomiting, tiredness, seizures, ketoacidosis, pancreatitis, hypoglycaemia and dehydration.
DIAGNOSIS:
Diagnosis is
based on clinical features. Genetic studies are also done.
TREATMENT:
Treatment is symptomatic.
Dieticians are consulted. High dose of thiamine is given.
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