Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania

D. Holmes Morton, Caroline S. Morton, Kevin A. Strauss, Donna L. Robinson, Erik G. Puffenberger, Christine Hendrickson, Richard I. Kelley

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)5-17
Number of pages13
JournalAmerican Journal of Medical Genetics - Seminars in Medical Genetics
Volume121 C
Issue number1
Publication statusPublished - Aug 15 2003

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Keywords

  • General pediatric medical care
  • Genetic diseases
  • Genotype-phenotype correlation
  • Metabolic diseases

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Morton, D. H., Morton, C. S., Strauss, K. A., Robinson, D. L., Puffenberger, E. G., Hendrickson, C., & Kelley, R. I. (2003). Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. American Journal of Medical Genetics - Seminars in Medical Genetics, 121 C(1), 5-17.