Newborn screening for Krabbe disease in New York State: The first eight years' experience

Genetics in Medicine

Volumn 18, Issue 3, 2016, Pages 239-248

  Orsini, Joseph J ^a   Kay, Denise M ^a   Saavedra Matiz, Carlos A ^a   Wenger, David A ^b   Duffner, Patricia K ^c   Erbe, Richard W ^d   Biski, Chad ^a   Martin, Monica ^a   Krein, Lea M ^a   Nichols, Matthew ^a   Kurtzberg, Joanne ^e   Escolar, Maria L ^f   Adams, Darius J ^g,h   Arnold, Georgianne L ^f,i   Iglesias, Alejandro ^j   Galvin Parton, Patricia ^k   Kronn, David F ^l   Kwon, Jennifer M ⁱ   Levy, Paul A ^m   Pellegrino, Joan E ⁿ   Shur, Natasha ^g   Wasserstein, Melissa P ^o   Caggana, Michele ^a   more..

^a WADSWORTH CENTER   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c UNIVERSITY AT BUFFALO   (United States)

^d CHILDREN S HOSPITAL OF BUFFALO   (United States)

^e DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^g ALBANY MEDICAL CENTER   (United States)

^h Atlantic Health   (United States)

ⁱ UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^j NewYork Presbyterian Hospital   (United States)

^k STONY BROOK UNIVERSITY MEDICAL CENTER   (United States)

^l NEW YORK MEDICAL COLLEGE   (United States)

^m CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

ⁿ State University of New York Upstate Medical University: College of Medicine   (United States)

^o MOUNT SINAI SCHOOL OF MEDICINE   (United States)

more..

Author keywords

galactocerebrosidase galactosylceramidase; GALC gene; globoid cell leukodystrophy; Krabbe disease newborn screening; lysosomal storage disorder

Indexed keywords

GALACTOSYLCERAMIDASE;

ALLELE; ARTICLE; DISABILITY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; FOLLOW UP; GENE FREQUENCY; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; HAPLOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOSITY; HIGH RISK INFANT; HOMOZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC EXAMINATION; NEWBORN SCREENING; PREDICTIVE VALUE; PROMOTER REGION; UNITED STATES; ADVERSE EFFECTS; ALGORITHM; ENZYMOLOGY; GENETICS; LEUKODYSTROPHY, GLOBOID CELL; MASS SPECTROMETRY; METABOLISM; NEW YORK; NEWBORN; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT OUTCOME;

ALGORITHMS; DRIED BLOOD SPOT TESTING; GALACTOSYLCERAMIDASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFANT, NEWBORN; LEUKODYSTROPHY, GLOBOID CELL; MASS SPECTROMETRY; NEONATAL SCREENING; NEW YORK; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; TREATMENT OUTCOME;

EID: 84959289821     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.211     Document Type: Article

References (41)

1. Duffner PK, Jalal K, Carter RL. The Hunters Hope Krabbe family database. Pediatr Neurol 2009;40:13-18.
2. Wenger DA, Suzuki K, Suzuki Y. Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease). In: Valle D, Beaudet AL, Vogelstein B, et al. (eds). The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill: New York, 2013.
3. Debs R, Froissart R, Aubourg P, et al. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis 2013;36:859-868.
4. Duffner PK, Barczykowski A, Jalal K, Yan L, Kay DM, Carter RL. Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. Pediatr Neurol 2011;45:141-148.
5. Duffner PK, Barczykowski A, Kay DM, et al. Later onset phenotypes of Krabbe disease: results of the world-wide registry. Pediatr Neurol 2012;46:298-306.
6. De Gasperi R, Gama Sosa MA, Sartorato EL, et al. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am J Hum Genet 1996;59:1233-1242.
7. Luzi P, Rafi MA, Wenger DA. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. Ann Neurol 1996;40:116-119.
8. Kler W. Leukodystrophies with late disease onset: An update. Curr Opin Neurol 2010;23:234-241.
9. Lyon G, Hagberg B, Evrard P, Allaire C, Pavone L, Vanier M. Symptomatology of late onset Krabbes leukodystrophy: The European experience. Dev Neurosci 1991;13:240-244.
10. Rafi MA, Luzi P, Chen YQ, Wenger DA. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum Mol Genet 1995;4:1285-1289.
11. Kleijer WJ, Keulemans JL, van der Kraan M, et al. Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. J Inherit Metab Dis 1997;20:587-594.
12. Duffey TA, Bellamy G, Elliott S, et al. A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler). Clin Chem 2010;56:1854-1861.
13. Li Y, Scott CR, Chamoles NA, et al. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004;50:1785-1796.
14. Adam BW, Orsini JJ Jr, Martin M, et al. The preparation and storage of driedblood spot quality control materials for lysosomal storage disease screening tests. Clin Biochem 2011;44:704-710.
15. Metz TF, Mechtler TP, Orsini JJ, et al. Simplified newborn screening protocol for lysosomal storage disorders. Clin Chem 2011;57:1286-1294.
16. Hunters Hope. 2015. http://www.huntershope.org/site/PageServer?pagename= unbs-state. Accessed 26 October 2015.
17. Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Newborn screening for lysosomal storage disorders. Semin Perinatol 2015;39:206-216.
18. Zhang XK, Elbin CS, Chuang WL, et al. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem 2008;54:1725-1728.
19. la Marca G, Casetta B, Malvagia S, Guerrini R, Zammarchi E. New strategy for the screening of lysosomal storage disorders: The use of the online trapping-And-cleanup liquid chromatography/mass spectrometry. Anal Chem 2009;81:6113-6121.
20. De Jesus VR, Zhang XK, Keutzer J, et al. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin Chem 2009;55:158-164.
21. Duffner PK, Caggana M, Orsini JJ, et al. Newborn screening for Krabbe disease: The New York State model. Pediatr Neurol 2009;40:245-52; discussion 253.
22. Duffner PK, Caviness VS Jr, Erbe RW, et al. The long-Term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med 2009;11:450-454.
23. Escolar ML, Poe MD, Martin HR, Kurtzberg J. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics 2006;118:e879-e889.
24. Escolar ML, Poe MD, Provenzale JM, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbes disease. N Engl J Med 2005;352:2069-2081.
25. Orsini JJ, Morrissey MA, Slavin LN, et al. Implementation of newborn screening for Krabbe disease: population study and cutoff determination. Clin Biochem 2009;42:877-884.
26. Hopkins PV, Campbell C, Klug T, Rogers S, Raburn-Miller J, Kiesling J. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. J Pediatr 2015;166:172-177.
27. Tappino B, Biancheri R, Mort M, et al. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat 2010;31:E1894-E1914.
28. Xu C, Sakai N, Taniike M, Inui K, Ozono K. Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotypephenotype correlation. J Hum Genet 2006;51:548-554.
29. Furuya H, Kukita Y, Nagano S, et al. Adult onset globoid cell leukodystrophy (Krabbe disease): Analysis of galactosylceramidase cDNA from four Japanese patients. Hum Genet 1997;100:450-456.
30. Luzi P, Rafi MA, Wenger DA. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum Mol Genet 1995;4: 2335-2338.
31. Sharp ME, Laule C, Nantel S, et al. Stem cell transplantation for adult-onset krabbe disease: report of a case. JIMD Rep 2013;10:57-59.
32. Satoh JI, Tokumoto H, Kurohara K, et al. Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. Neurology 1997;49: 1392-1399.
33. Kemper AR, Knapp AA, Green NS, Comeau AM, Metterville DR, Perrin JM. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genet Med 2010;12:539-543.
34. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31-40.
35. Fiumara A, Barone R, Arena A, et al. Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121GA (p.Gly41Ser) mutation. Clin Genet 2011;80:452-458.
36. Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis 2006;29:677-682.
37. Tanner AK, Chin EL, Duffner PK, Hegde M. Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. Orphanet J Rare Dis 2012;7:38.
38. Escolar ML, Yelin K, Poe MD. Neurodevelopmental outcome of children with infantile Krabbe disease treated with umbilical cord blood transplantation: 10 years of follow-up. Curr Med Lit Lysosomal Storage Dis 2006;6:71-9.
39. Turgeon CT, Orsini JJ, Sanders KA, et al. Measurement of psychosine in dried blood spots-A possible improvement to newborn screening programs for Krabbe disease. J Inherit Metab Dis 2015;38:923-929.
40. Chuang WL, Pacheco J, Zhang XK, et al. Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease. Clin Chim Acta 2013;419:73-76.
41. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424