Definition:
Leucinosis, or sometimes known as the Maple syrup urine disease (MSUD), is an autosomal recessive metabolic disorder that affects branched-chain amino acids.
Diagnosis:
The disease is diagnosed by a deficiency in the enzyme branched-chain a-keto acid dehydrogenase, which results to a build up of branched-chain amino acids as well as their toxic waste.
Treatment:
There is no specific treatment for Leucinosis. Patients are then recommended to have consistent and careful monitoring of blood chemistry paired with a special diet. Patients with the disease are capable of living healthy lives upon consistent diet and test management.
Symptoms and Signs:
Persons with Leucinosis exhibit conditions such as vomiting, loss of appetite, dehydration, lethargy, seizures, hyptomia and neurological decline.
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