Question

During unit four we briefly discussed maple syrup urine disease. The defect causing this disease is associated with the alpha-ketoacid decarboxylase complex. This disease can result in mental retardation, how does the disease do this? What are the processes or steps leading to this?

Answer 1

Maple syrup urine disease is one which affects the amninoacids which are branched .It mainly affects the infants.

In simple the branched chain aminoacids are leucine,isoleucine and valine which are essential aminoacids. These are achieved from the respective alpha keto acids.When there is metabolic alterations in the alpha keto acid synthesis,it leads to deposition of the branched chain amimoacids, simultaneously with increased function of alpha keto acids resulting in alphaketoacidosis.Here leucine is ketogenic and isoleucine and valium are glucogenic and ketogenic. This causes metabolic crisis (low blood sugar and deposition of toxic in the body >>nausea,vomiting, anorexia ,diarrhoea (GI),the toxin reaches the brain and causes mood changes,seizure hypertonia or hypotonia,affecting axial muscle and cause extreme arch like position,lethargy ,coma >> cerebral edema >>death.