Word: aciduria
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...here are founder-gene defects carried by the dozen families that established this population 300 years ago," observes Dr. D. Holmes Morton, 47, a pediatrician and geneticist who gave up an academic career to work among the Amish. One of those diseases, he has discovered, is glutaric aciduria, a metabolic deficiency that usually strikes children between the ages of 6 months and 5 years. Often triggered by childhood illnesses such as chickenpox or strep throat, it can cause permanent brain injury that can lead to chronic disability, medical complications and even early death...
Morton's introduction to glutaric aciduria and the Amish came one night in 1987 while he was on duty in the clinical laboratory at Children's Hospital of Philadelphia. A fellow physician, Dr. Charles Nichter, asked him to analyze the urine sample of an Amish child, Danny Lapp, from Lancaster County. At the time, Danny was alert but had no control over his arms or legs--signs of cerebral palsy, which was Nichter's medical specialty. Morton's testing revealed a metabolic fingerprint that could be caused only by glutaric aciduria, a disorder that had previously been reported only eight...