Word: aciduria
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...When Dr. Morton told us that our daughter Barbie Ann had glutaric aciduria, John and I thought he had made a mistake," says Lydia Stoltzfoos, daughter-in-law of Jacob and Naomi. But Barbie Ann soon developed a fever, and Morton admitted her to Lancaster General. Stressed by infection, a child with glutaric aciduria does not metabolize certain amino acids normally. The resulting buildup of glutarate attacks the nervous system and damages the basal ganglia, a part of the brain that controls body movement. Once brain injury occurs, a child never recovers. "If it weren't for Dr. Morton...
Over the years, Morton has traced each family's genetic heritage through 14 generations. He has determined a carrier frequency for the disorder among the Amish of about 1 in 10 people. Working with Dr. Richard Kelley, a pediatrician, Morton diagnosed glutaric aciduria in 16 other Amish children. The doctors' studies predicted that 50 more children born in the next generation would inherit the two copies of the defective gene needed to cause the disorder. According to the statistics, without treatment nearly all would be disabled, and 12 of them would die before age 5. "Glutaric aciduria is a treatable...
Discovering early just who has glutaric aciduria is more than half the battle. Once the disease is diagnosed, Morton's main task is to put his young patients on a low-protein, high-riboflavin diet to lessen the effects of the disorder and prevent medical complications. If a stricken child can survive to age 5 with this help, he or she typically becomes resistant to the worst of the disease...
Morton may well have performed an even more remarkable service to modern medicine by establishing a link between metabolic disorders like glutaric aciduria and cerebral palsy. Most practitioners have long believed that oxygen deprivation or trauma at or before birth causes cerebral palsy, a motor disorder that reflects injury to the cerebral cortex and basal ganglia. But Dr. Karin Nelson at the National Institutes of Health, as well as colleagues at other research centers, has concluded that these causes do not explain most cases of the disease. "Holmes Morton has given us fresh insight into the source of cerebral palsy...
Morton and his colleagues have tested thousands of Pennsylvania newborns for inherited metabolic disorders during the past five years and in the process discovered that more than half the children with glutaric aciduria are not of Amish descent. In fact, Morton points out, many countries, including Ireland, Germany, Sweden, Israel, Spain, Saudi Arabia, Canada and the U.S., have clusters of children with glutaric aciduria...