MSUD is a hereditary metabolic disorder that results from the inability to break down certain amino acids. The condition is best treated using dietary therapy. People with this condition have a higher concentration of leucine, which often results in neurological complications. Some of the symptoms of this disorder include; coma, seizures, vomiting, loss of appetite, stunted growth, neurological damage, sleep disorder, and maple syrup scent in the urine.
The four major types of this disorder include the classic, intermediate, intermittent and thiamine responsive types. To test for this condition, a plasma and urine amino acid test are essential. In the treatment of this condition, besides dietary therapy, hemodialysis might help in the reduction of plasma amino acids. The monitoring of the individualâ€™s amino acid is essential in making sure that the nervous system of the patient is not damaged. The individual must be treated for any stressful conditions and other illnesses. With proper treatment, individuals with this condition can live near-normal lives.
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