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

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 121 C, Issue 1, 2003, Pages 5-17

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

^a CLINIC FOR SPECIAL CHILDREN   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NONE

Author keywords

General pediatric medical care; Genetic diseases; Genotype phenotype correlation; Metabolic diseases

Indexed keywords

AMINO ACID ANALYSIS; CHILD HEALTH CARE; CHILDHOOD INJURY; COMMUNITY CARE; COMORBIDITY; DIAGNOSTIC PROCEDURE; ECONOMICS; ETHNIC GROUP; ETHNOLOGY; FINANCIAL MANAGEMENT; GAS CHROMATOGRAPHY; GENE MUTATION; GENEALOGY; GENETIC DISORDER; GENETIC PROCEDURES; GENETIC SCREENING; GENETICS; GENOTYPE; HEALTH CARE COST; HEALTH CARE DELIVERY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNE DEFICIENCY; LONG TERM CARE; MALNUTRITION; MASS SPECTROMETRY; MEDICAL CARE; METABOLIC DISORDER; NEWBORN SCREENING; NON PROFIT ORGANIZATION; PATHOPHYSIOLOGY; PEDIATRIC HOSPITAL; PEDIATRICS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELIGION; REVIEW; SOCIAL ASPECT; UNITED STATES;

EID: 0041317711     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.20002     Document Type: Review

References (27)

1. Baric I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Muller E, Morton DH, Superti-Furga A, Hoffmann GF. 1998. Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis 21:326-340.
2. Biery BJ, Stein DE, Morton DH, Goodman SI. 1996. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet 59:1006-1011.
3. Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A. 1999. Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet 65:1785-1790.
4. Carlton VEH, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. 2003. Complex inheritance of familiar hypercholanemia with associated mutations in TJP2 and BAAT. Nature Genet 34:91-96.
5. Chang S, Rosenberg MJ, Morton DH, Francomano CA, Biesecker LG. 1998. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. Hum Mol Genet 7:865-870.
6. Francomano CA, McKusick VA, Biesecker L. 2003. Medical Genetic Studies in the Amish: Historical Perspective. Am J Med Genet 00:1-14.
7. Gibson KM, Bennett MJ, Naylor EW, Morton DH. 1998. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr 132:519-523.
8. Goldstein JL, Brown MS. 1997. The clinical investigator: bewitched, bothered, and bewildered-but still beloved. J Clin Invest 99:2803-2812.
9. Higgins JJ, Morton DH, Loveless JM. 1999. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. Neurology 52:146-150.
10. Hostetler JA. 1993. Amish society. Baltimore: Johns Hopkins Press. p 1-435.
11. Hymel KP, Jenny C, Block RW. 2002. Intracranial hemorrhage and rebleeding in suspected victims of abusive head trauma: addressing the forensic controversies. Child Maltreat 7: 329-348.
12. Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. 2000. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 67:814-821.
13. Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. 2002. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet 112:318-326.
14. Martin J, Martin VM. 1995. What is wrong with our baby? Ephrata, PA: Grace Publishing. p 1-160.
15. McKusick VA. 1978. Medical genetic studies of the Amish. Selected papers. Baltimore: Johns Hopkins University Press. p 1-525.
16. Mitsuuchi Y, Kawamoto T, Miyahara K, Morton DH, Naiki Y, Kuribayashi I, Toda K, Hara T, Orii T, Yasuda K, Miura K, Nakao K, Imura H, Ulick S, Shizuta Y. 1993. Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. Biochem Biophys Res Commun 190:864-869.
17. Morton DH. 1994. Through my window-remarks at the 125th year celebration of Children's Hospital of Boston. Pediatrics 94:785-791.
18. Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. 1991. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet 41:89-95.
19. Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger EG, Bull L, Knisely AS. 2000. Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FICI and is improved by ursodiol. Gastroenterology 119:188-195.
20. Morton DH, Strauss KA, Puffenberger EG, Robinson DL, Kelley RI. 2002a. Inherited disorders in the Amish and Mennonite demes of Pennsylvania. Am J Hum Genet 71:A2436.
21. Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. 2002b. Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics 109:999-1008.
22. Puffenberger EG. 2003. Genetic heritage of the Old Order Mennonites of Southeastern Pennsylvania. Am J Med Genet (Semin Med Genet) 121C:18-31.
23. Puffenberger EG, Morton DH. 2002. Survey of molecular lesions causing genetic disease in the Old Order Amish and conservative Mennonites of Lancaster County, PA. Am J Hum Genet 71:A2238.
24. Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG. 2002. Mutation in the deoxynucleotide carrier DNC causes congenital microcephaly. Nature Genet 32: 175-179.
25. Strauss KA, Pfannl R, Morton DH. 2002. The neuropathology of Amish lethal microcephaly. Am J Hum Genet 71:A517.
26. Strauss KA, Morton DH. 2003a. Type 1 glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet (Semin Med Genet) 121C:53-70.
27. Strauss KA, Puffenberger EG, Robinson DL, Morton DH. 2003b. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet (Semin Med Genet) 121C:38-52.