D. Holmes Morton, M.D., Sc.D. (Hon.), is co-founder and director of the Clinic for Special Children. He is a pediatrician with an interest in the influence of early diagnosis and treatment upon the natural history and neurobiology of inherited metabolic disorders.
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania
Version of Record online: 27 JUN 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Medical Genetics Studies in the Amish
Volume 121C, Issue 1, pages 5–17, 15 August 2003
How to Cite
Morton, D. H., Morton, C. S., Strauss, K. A., Robinson, D. L., Puffenberger, E. G., Hendrickson, C. and Kelley, R. I. (2003), Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. Am. J. Med. Genet., 121C: 5–17. doi: 10.1002/ajmg.c.20002
- Issue online: 9 JUL 2003
- Version of Record online: 27 JUN 2003
- genetic diseases;
- general pediatric medical care;
- metabolic diseases;
- genotype-phenotype correlation
The Clinic for Special Children in Lancaster County, Pennsylvania, is a community-supported, nonprofit pediatric medical practice for Amish and Mennonite children who have genetic disorders. Over a 14-year period, 1988–2002, we have encountered 39 heritable disorders among the Amish and 23 among the Mennonites. We emphasize early recognition and long-term medical care of children with genetic conditions. In the clinic laboratory we perform amino acid analyses by high-performance liquid chromatography (HPLC), organic acid analyses by gas chromatography/mass spectrometry (GC/MS), and molecular diagnoses and carrier tests by polymerase chain reaction (PCR) amplification and sequencing or restriction digestion. Regional hospitals and midwives routinely send whole-blood filter paper neonatal screens for tandem mass spectrometry and other modern analytical methods to detect 14 of the metabolic disorders found in these populations as part of the NeoGen Inc. Supplemental Newborn Screening Program (Pittsburgh, PA). Medical care based on disease pathophysiology reduces morbidity, mortality, and costs for the majority of disorders. Among our patients who are homozygous for the same mutation, differences in disease severity are not unusual. Clinical problems typically arise from the interaction of the underlying genetic disorder with common infections, malnutrition, injuries, and immune dysfunction that act through classical pathophysiological disease mechanisms to influence the natural history of disease. © 2003 Wiley-Liss, Inc.