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

  title={Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania},
  author={D. Holmes Morton and Caroline S. Morton and Kevin A Strauss and Donna L. Robinson and Erik G. Puffenberger and Christine L Hendrickson and Richard I Kelley},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  • D. MortonC. Morton R. Kelley
  • Published 15 August 2003
  • Medicine
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
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. [] Key Method 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…

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Families of patients from these communities receiving care at the SUNY Upstate Medical University Pediatric Cystic Fibrosis Center have accepted preventive therapy, acute medical interventions including home intravenous antibiotic administration, and some immunizations for their children with cystic fibrosis, which have improved the health of their patients.

Investigation of the common MELAS mutation in the Northwestern Pennsylvania Amish community: mutation frequency and effectiveness of an educational intervention

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A focus on improving access to newborn screening alongside establishing approaches to change parental perceptions on the importance of newborn screening is necessary for increasing newborn screening in these Plain communities.

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Diagnosis and treatment of maple syrup disease: a study of 36 patients.

OBJECTIVE To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD). METHODS Family histories and molecular testing for the Y393N mutation of the E1alpha subunit of the

Diagnosis and management of glutaric aciduria type I

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Mutant deoxynucleotide carrier is associated with congenital microcephaly

It is shown, by using a genealogy database and automated pedigree software, that 23 nuclear families affected with MCPHA are connected to a single ancestral couple and data indicate that mitochondrial deoxynucleotide transport may be essential for prenatal brain growth.

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.

A new metabolic disorder characterized by severe congenital microcephaly, death within the first year, and severe 2-ketoglutaric aciduria has been found among the Old-Order Amish of Lancaster County,

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

It is concluded that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1, and a stop codon in exon 11, predicted to truncate the protein at amino acid 179, which segregates with the disease.

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

This study is the first to demonstrate that a mutation in the PYGL gene can cause GSD6, and provides a basis for the development of a simple and non-invasive diagnostic test for the disease and the carrier state in this population.

Medical genetic studies in the Amish: Historical perspective

Medical genetics studies in the Amish began in 1962, when two events sparked the interest of one of the authors (V.A.M.) and it was apparent that many characteristics of Amish society made it an excellent community in which to study genetic traits, particularly recessive conditions.

Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania

  • E. Puffenberger
  • Biology
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2003
The history of this population in the United States provides insight into the increased incidence of several genetic diseases, most notably maple syrup urine disease (MSUD), Hirschsprung disease (HSCR), and congenital nephrotic syndrome.

Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.

This work acknowledges the superb assistance of Jennifer Scott, for family studies, and Kimberly Bentley, Andrew Wong, and Gilbert Wong, for DNA sequencing and technical assistance; and Carl Kashuk, for informatics.

Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

It is found that GA-I can be diagnosed in the Amish by measurement of urinary glutaric acid concentrations using isotope-dilution gas Chromatography/mass spectrometry, whereas the diagnosis can easily be missed by routine urine organic acid gas chromatography.