Rare transplant for infant with genetic disorder

  • | Friday | 11th January, 2019

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 .

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. 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 . Certain amino acids called branched chain amino acids are not metabolized and cause damage to the nervous system. The same happened to Mythilli. In those affected by MSUD, the urine smells like maple syrup or burnt syrup,” said Dr Balbir Singh, senior consultant - HPB and liver surgery.“In Mythili’s case, she was unable to sustain the special diet given to patients with the disease and she continued to suffer from seizures and even developed hearing and vision loss. In view of poor metabolic control and severe phenotype, the decision to transplant liver was taken,” said Dr K Venu Gopal, senior consultant surgeon HPB surgery and liver transplantation According to latest medical reports of Mythili, her liver is functioning well and the amino acid levels in the blood has come down. The doctors also informed that she did not have further seizures after the surgery and the developmental milestones are improving. “Since inception, 20 infants have undergone liver transplant in Global hospitals,” said Dr K. Ravindranath, chairman, Gleneagles Global hospitals group

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