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Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania
Author(s) -
Morton D. Holmes,
Morton Caroline S.,
Strauss Kevin A.,
Robinson Donna L.,
Puffenberger Erik G.,
Hendrickson Christine,
Kelley Richard I.
Publication year - 2003
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.20002
Subject(s) - disease , newborn screening , malnutrition , medicine , medical genetics , pediatrics , biology , genetics , gene
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.