Article

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

  1. D. Holmes Morton†,*,
  2. Caroline S. Morton‡,
  3. Kevin A. Strauss§,
  4. Donna L. Robinson,
  5. Erik G. Puffenberger‖,
  6. Christine Hendrickson††,
  7. Richard I. Kelley‡‡

Article first published online: 27 JUN 2003

DOI: 10.1002/ajmg.c.20002

Issue

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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

Additional Information

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

Author Information

  1. †

    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.

  2. ‡

    Caroline S. Morton, Ed. M., is co-founder and manager of the non-profit clinic and educational organization called the Clinic for Special Children.

  3. §

    Kevin A. Strauss, M.D., is a pediatrician doing post-graduate studies at the Clinic focused upon the neurobiology of genetic disorders and the pathophysiology of metabolic injuries of the brain.

  4. Donna L. Robinson, R.N., C.N.P., is a pediatric intensive care nurse practitioner with special interest in developing nursing protocols for management of hospitalized patients with metabolic disorders.

  5. ‖

    Erik G. Puffenberger, Ph.D., is laboratory director at the Clinic for Special Children, with special interest in molecular biology and population genetics.

  6. ††

    Christine Hendrickson, RN, is a pediatric nurse who recently joined the Clinic staff to work with children with genetic disorders in the outpatient setting.

  7. ‡‡

    Richard I. Kelley, M.D., Ph.D., is Associate Professor, Department of Pediatrics, Johns Hopkins University, and member of the Division of Metabolism, Kennedy-Krieger Institute, Baltimore MD. Dr. Kelley is consulting pediatrician and geneticist, and a founding board member, of the Clinic for Special Children.

*Clinic for Special Children, 535 Bunker Hill Rd., Strasburg, PA 17579.

  1. †

    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.

  2. ‡

    Caroline S. Morton, Ed. M., is co-founder and manager of the non-profit clinic and educational organization called the Clinic for Special Children.

  3. §

    Kevin A. Strauss, M.D., is a pediatrician doing post-graduate studies at the Clinic focused upon the neurobiology of genetic disorders and the pathophysiology of metabolic injuries of the brain.

  4. Donna L. Robinson, R.N., C.N.P., is a pediatric intensive care nurse practitioner with special interest in developing nursing protocols for management of hospitalized patients with metabolic disorders.

  5. ‖

    Erik G. Puffenberger, Ph.D., is laboratory director at the Clinic for Special Children, with special interest in molecular biology and population genetics.

  6. ††

    Christine Hendrickson, RN, is a pediatric nurse who recently joined the Clinic staff to work with children with genetic disorders in the outpatient setting.

  7. ‡‡

    Richard I. Kelley, M.D., Ph.D., is Associate Professor, Department of Pediatrics, Johns Hopkins University, and member of the Division of Metabolism, Kennedy-Krieger Institute, Baltimore MD. Dr. Kelley is consulting pediatrician and geneticist, and a founding board member, of the Clinic for Special Children.

Publication History

  1. Issue published online: 9 JUL 2003
  2. Article first published online: 27 JUN 2003

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Keywords:

  • genetic diseases;
  • general pediatric medical care;
  • metabolic diseases;
  • genotype-phenotype correlation

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. © 2003 Wiley-Liss, Inc.

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