Laboratory tests indicated that individuals with this condition were prone to hypoglycemia and hyperammonemia. Analysis of the activity of the branched-chain alpha-ketoacid dehydrogenase indicated that this enzyme was inactive resulting in the accumulation of branched-chain amino acids in the body cells. Laboratory tests also pointed to a higher concentration of branched-chain ketoacids in the urine. Branched-chain alpha-ketoacid dehydrogenase complex mutation often results in the formation of a different phenotype.
If a child is suspected of having MSUD due to the clinical findings, ethnicity, or family background, various tests need to be done to verify the condition. For instance, there is a need to find out whether the cerumen has a maple syrup odor. This has to be done between 12 to 24 hours after birth. For this condition, dietary therapy is the best remedy. Findings show that children with this condition, if not treated promptly are prone to the swelling of their brains, which might lead to the central respiratory system breakdown. It is therefore important to carry out an analysis of the plasma amino acid (Acosta, 2010).
