A four-year-old girl with a rare genetic disorder — ornithine transcarbamylase (OTC) deficiency — who was at risk of sudden death from eating high-protein food underwent five surgical procedures before she was finally able to eat her favorite cake and leave the hospital last week.
OTC deficiency is a disorder of the urea cycle, in which the body is unable to process and remove the ammonia which is formed when proteins are broken down in the body.
Elevated levels of ammonia in the blood can become toxic, resulting in severe mental disability, seizures and other life-threatening problems.
The girl, surnamed Hsu (許), was first diagnosed with OTC deficiency in May last year. She had to avoid protein to prevent acute hyperammonemia, and her doctor recommended a liver transplant.
Nine adult relatives volunteered to be donors and Hsu underwent her first liver transplant in February after her mother’s younger sister donated 25 percent of her liver.
However, after the transplant and revascularization, Hsu suffered from hepatic artery thrombosis and required an emergency retransplantation.
Her family members again volunteered to donate parts of their liver and it was decided to use 37 percent of the liver of her father’s sister, which was the best match.
After the second transplant in March, followed by two other procedures, Hsu spent 195 days in hospital, even celebrating her birthday in an intensive care unit with a small cake placed in front of her, which she was unable to eat.
The surgeries were performed by a team led by Chen Chao-long (陳肇隆), honorary superintendent of Chang Gung Memorial Hospital in Kaohsiung.
Hsu’s condition stabilized in July and she was moved to a general ward, where she celebrated with a piece of her favorite cake.
She was discharged from hospital last week.
Yesterday, during a visit to the hospital for a follow-up examination, Hsu’s father treated her to another piece of cake.
Lin Chih-che (林志哲), a surgeon at the hospital, said the medical team was moved by how all of Hsu’s relatives were willing to support her and had volunteered to donate parts of their liver, as most donors in transplantation cases are close family members.
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