Certain amino acids called branched chain amino acids are not metabolized and cause damage to the nervous system.
HYDERABAD: A six-month-old baby, born with a genetic disorder , underwent a rare liver transplant surgery at a city hospital.The baby named Mythili suffered multiple seizures from day eight which could not be controlled through medication.
“Since inception, 20 infants have undergone liver transplant in Global hospitals,” said Dr K. Ravindranath, chairman, Gleneagles Global hospitals group
The doctors also informed that she did not have further seizures after the surgery and the developmental milestones are improving.
Initial evaluation showed that she has increased levels of branched chain amino acids (BCAA) and magnetic resonance imaging (MRI) scan revealed diffuse brain damage consistent with Maple Syrup Urine Disease, a rare disease.“MSUD is a genetic disease and occurs due to a particular BCKD gene .
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