According to the laboratory tests carried out, it also emerged that individuals with the MSUD experienced severe metabolic crisis only if they had reduced BCKAD enzyme activity. It was clear that those with a higher BCKAD enzyme activity had a higher tolerance to leucine. They, therefore, experienced less metabolic crisis and reduced levels of plasma leucine concentration. It was also realized that the maple syrup odor was quite evident in their urine and cerumen. Irritability and poor appetite were observable in these individuals. They exhibited stereotyped movements, for instance, fencing and cycling. In severe cases, they were prone to coma or experienced respiratory failure.
After the neonatal period, the children with the condition had leucosis due to leucine intoxication. This is precipitated by protein degradation caused by infection, injury, surgery, or stress. Some experienced ataxia, sleep disturbances, mood swings, and hallucinations. Focal dystonia and cognitive impairment were also common in the victims. The main cause of coma in some patients was attributed to the increase in the leucine and alpha-ketoisocaproic acid levels in the plasma. In such a case, the most visible symptoms of the condition were nausea and vomiting (Brodsky, 2010).
Individuals with this condition were at a high risk of cerebral edema and neurological disorders. This can be attributed to leucosis and hyperosmolarity caused by high levels of branched-chain amino acid, keto acid, and high levels of fatty acids in the plasma. The condition is also characterized by an increase in the level of branched-chain keto acids and sodium in the urine. This condition is reversible if there is no significant brain damage to the individual during the earlier stages of brain development. A long-term amino acid imbalance often affects the childâ€™s brain, which might result in neurological damage. Some children with the condition exhibited signs of hyperactivity or impulsivity, accompanied by low concentration levels. In adults, however, increased cases of cognitive impairment were common.
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