Thanks to a state newborn screening test 21 years ago, Kyle Miyazaki expects to graduate in June from the University of California at Los Angeles and apply to medical school.

His mother, Karen Miyazaki of Liliha, recalled that less than a week after he was born, a doctor called, “;said something about enzymes”; and advised her to take her son to a laboratory for tests.

A disorder called phenylketonuria was detected through the Newborn Metabolic Screening Program, established by the state Health Department in 1965. PKU requires a low-protein diet because of a genetic inability to process the amino acid phenylalanine.

Early detection of genetic, metabolic, hormonal or other conditions can prevent mental retardation, disabilities and even death, said Christine Matsumoto, screening program coordinator.

Screening for PKU alone has saved the state about $31 million, she said. Add to that the benefits of screening for other disorders added to the program over the years.

Hypothyroidism was the second disorder added to the screening panel in 1983. The latest was cystic fibrosis in 2007, for a total of 32. Screening is recommended for 29 conditions by the American College of Medical Genetics.

Bruce Coppa, March of Dimes Hawaii Chapter chairman, presented a national award Tuesday to Lt. Gov. James R. “;Duke”; Aiona and health officials, calling Hawaii “;a national leader in newborn screening.”;

But Hawaii's program was last in the nation in 1995 and on the verge of being “;nixed,”; Matsumoto said. The Legislature set up a special fund in 1996 to make the program self-supporting with funds from screening kits purchased by hospitals for $55 each. Specimens are tested at the Oregon State Public Health Laboratory.

“;We not only saved an excellent program from being let go, but we saved lives,”; Matsumoto said.

Families suddenly faced with mystifying diseases in their newborns expressed gratitude for the screening program.

Miyazaki said she worked with a Health Department team, a doctor and dietitian. She had to order low-protein milk and other products from the mainland, which was costly, she said. “;We fought for a (state) bill to have insurance cover it.”;

She said she was worried when her son left home, but UCLA has accommodated his diet.

Chris and Annie Lohmann of Mililani said their 6-year-old, Samantha, was screened with PKU 11 days after birth. Their 9-year-old daughter, Ashley, does not have the genetic disease.

Had it not been picked up in Samantha, the first-grader who won a class award last week for academics and behavior might have had profound mental retardation, her mother said.

“;Early on, it was very difficult,”; Annie Lohmann said. But the screening program provided them with nutritional, educational and counseling services, she said. “;It meant just the world to our family.”;

Lohmann, a teacher's aide at Mililani Uka Elementary School, said the cafeteria staff is adjusting food for Samantha. “;Six weeks ago she had her first school lunch like other kids.”;

“;Although screening is mandated, an important piece is follow-up, which is done by the staff until the children are 21,”; said Loretta Fuddy, Health Department Family Health Services Division chief.

The staff includes Dr. Patricia Heu, head of the Children with Special Health Needs Branch, Hawaii genetics coordinator Sylvia Au and Matsumoto, who plans to retire in December.

“;It has been such a privilege for me to do this and give children the potential to be all they can be,”; Matsumoto said. “;Very few people get to see the fruit of their labor. I've followed these kids for 22 years.”;