News Article: Doctors cure St. Louis boy's MSUD with liver transplant

At 7:30 a.m. on Feb. 3, 11-year-old Austin Sprock was on the operation table to receive a new liver.

It was less than 18 hours since he even knew he was on the waiting list.

The boy from High Ridge had received high priority because he had a rare condition, maple syrup urine disease, which prevented his body from properly processing protein.

MSUD is caused by the lack of an enzyme that breaks down certain types of amino acids, causing a toxic buildup in the bloodstream. The name comes from the sweet-smelling urine of infants with the disease.

Before last week, Austin could not eat meat, dairy, eggs, bread or a range of other foods. All his food was measured with a scale to make sure he did not exceed his protein limit for the day. He ate potatoes at every meal.

"I got really sick of them," Austin said.

A liver transplant is the only known cure for MSUD, but the risks scared Austin's parents from seeking the procedure until this winter, as his sicknesses grew more frequent and severe. A simple cold could touch it off.

"Over Christmas, Austin was extremely, extremely ill, almost to seizure level," mother Tina Sprock said. "We just couldn't do it anymore. We were afraid that one illness could cause permanent damage."

Austin wanted the operation. He just wanted to be able to eat normally.

His new liver gave him the enzymes to break down the branched-chain amino acids leucine, isoleucine and valine.

Upon his return home from St. Louis Children's Hospital, he ate his first ever piece of meat, a breakfast sausage.

"It tasted good," Austin said, speaking lethargically through the phone Sunday.

Tina Sprock said her son is recovering but has yet to regain his strength.

Post-surgery, he gets blood drawn twice a week from a central IV line in his chest, so doctors can check that there are no infections. Tina Sprock said Austin has gotten his blood drawn close to 700 times.

Austin is on heavy doses of immunosuppressant drugs to prevent his body from rejecting the new liver.

Tina Sprock said the 10 pills each morning and nine each evening can take him an hour to swallow. He doesn't like pills.

"It's hard," Austin said.

There won't be so many pills in coming months. After three months, most liver transplant patients are on only a couple different medicines, and by the end of a year, only one medicine, said Jeff Lowell, chief of Abdominal Organ Transplant at St. Louis Children's Hospital, who performed Austin's transplant.

Lowell said the transplant itself went perfectly, although Austin's sensitivity to the immunosuppressant drugs caused some problems with his kidney shortly after transplant. The dose was lowered, and the kidney quickly returned to normal.

"It's not uncommon that we have to fine tune things immediately afterward," Lowell said.

MU researchers have been studying MSUD in recent years.

Central Missouri's Mennonite community, which has a much higher rate of MSUD than the general population, has gained the attention of MU biochemistry professor Charlotte Phillips.

Reference:

http://www.themaneater.com/stories/2009/2/23/doctors-cure-st-louis-boys-msud-liver-transplant/