Darrell Sapp, Post-Gazette Jakob Jasin shows off the Y-shaped scar from his liver transplant. The 4-year-old is on the lap of his mother, Susan Jasin. At left is Dr. George Mazariegos, director of pediatric transplantation at Children's Hospital. Click photo for larger image.

When 4-year-old Jakob Jasin walked into his news conference at Children's Hospital yesterday, he proudly lifted his shirt to show off the Y-shaped scar from the transplant surgery that gave him a new liver, which he calls "Tommy."

On May 30, Jakob, of Fairfax, Va., became the first child at Children's and the sixth in the world to get a successful liver transplant for maple syrup urine disease, or MSUD, a rare, inherited metabolic condition.

Thanks to Tommy, "metabolically, he's cured," said Dr. Robert Squires, clinical director of gastroenterology.

While Jakob and his mother spoke to reporters, a second MSUD liver recipient, 3-year-old Grace Haddad, of Silver Spring, Md., and her parents watched. Meanwhile, a third child with MSUD, Nathan Tomkins, of Anchorage, Alaska, was undergoing transplant surgery elsewhere in the hospital.

Children's experts have developed the nation's first comprehensive liver transplantation protocol for MSUD patients. Worldwide, only a few surgeries have been done for the condition.

About 10 years ago in France, a child with the disease got a liver transplant after her own organ failed due to hepatitis A infection. Much to her doctors' surprise, the donor liver cured her of MSUD.

"That serendipity started people thinking about transplant as an option for the children," Squires explained. The disease is typically treated with a special diet.

People with MSUD are unable to properly break down certain kinds of amino acids, which are the building blocks of proteins. The subsequent buildup of toxic byproducts can lead to severe neurologic damage, including brain swelling, and death.

To get the disease, patients have to inherit copies of defective genes from both parents. Some newborn screening panels can identify it at birth, but the MSUD test is not performed at all hospitals.

Jakob was not screened when he was born in Florida. Only days old, he became lethargic and was admitted into the neonatal intensive care unit with brain swelling.

	Darrell Sapp, Post-Gazette Jakob Jasin gets a hug from his mother, Susan, during yesterday's press conference. Click photo for larger image.

"I knew it was something with his food, but I couldn't figure out what was going on," said his mother, Susan Jasin.

Jakob was quickly diagnosed with MSUD.

When his mother went home from the hospital, she smelled the distinctive maple syrup scent associated with the disease coming from his diapers discarded in the pail. An amino acid byproduct gives body secretions a burnt sugar smell.

"The urine smells like maple syrup, ear wax smells like maple syrup," Squires said. "It's striking."

Jakob was primarily treated with a strict diet free of the troublesome amino acids. Potatoes with some ketchup were his staple, along with apple sauce. He also ate a special formula that provided nutrients and safe amino acids. He'd never tasted chocolate or ice cream or cake.

A tenuous balance had to be struck so that he'd have enough protein to grow on, but not enough to precipitate a neurologic crisis, Squires said.

But even a simple cold could be a threat. If Jakob lost his appetite while sick, his body would try to get calories from his protein stores. That, too, could make the toxin levels increase and make his brain swell.

"If it was just a diet, I wouldn't be here," his mother said. "We're talking no meat, no eggs, no dairy. And everything is weighed and measured."

And if he refused to eat, they had to put a tube through his nose and into his stomach to feed him the special formula.

Jakob didn't develop permanent brain damage despite having about three metabolic crises annually. During those times, his head drooped to one side and he didn't walk normally. His mother continually feared that he wouldn't recover the next time.

After Jakob was diagnosed, Jasin met an 8-year-old with the disease who one day was fine and the next day could no longer walk or talk. That fueled Jasin's efforts to find an alternative for Jakob, especially after she realized that it would take years to develop a gene therapy to fix the underlying problem.

So she went to the transplant team at Children's. Squires said many experts weighed in to develop the protocol to treat Jakob if he went into metabolic crisis during the presurgical fasting period. The plan remains in place for other MSUD patients.

Keith Srakocic, Associated Press Oula Haddad, left, of Silver Spring, Md., looks at digital pictures with her 3-year-old daughter, Grace, during the news conference at Children's Hospital. Grace became the hospital's second MSUD liver recipient in June. Click photo for larger image.

About one out of every 250,000 children is born with the disease. It is more common among Mennonites, and the community in Lancaster has 40 to 60 children with it, Squires said.

According to Dr. George Mazariegos, director of pediatric transplantation, about 10 to 15 MSUD liver transplants might be performed annually.

For now, whole livers from unrelated cadaveric donors have been used. Partial livers from cadavers or unrelated living donors might be acceptable. A related donor may harbor a copy of the defective gene, and it's not known if their liver tissue would work effectively in MSUD patients, Mazariegos said.

Transplants will not correct existing neurologic damage, Squires noted.

And, "to be fair, there are some families that think they can manage it dietarily and they do quite well," he said. "Transplant would not necessarily be for every single child who has maple syrup urine disease."

A couple of weeks after he got his new liver, Jakob ate a cheeseburger for the first time in his life. He didn't like it then, his mother said, but now it's his favorite food, along with Double Stuf Oreos. He wants to have an ice cream party to see what other treats he's been missing.

Since the transplant, Jakob seems better able to focus his attention and his speech, hair and nails have changed, Jasin noted. He has already grown half an inch. He takes antirejection drugs, which will be gradually reduced to the lowest possible dose.