Early administration of enzyme replacement therapy for Pompe disease: Short-term follow-up results

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Hamdan, M A ^a   Almalik, M H ^a   Mirghani, H M ^b  

^a Department of Emergency Medicine   (United Arab Emirates)

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; GAA PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; ECHOCARDIOGRAPHY; ENZYME REPLACEMENT; ENZYMOLOGY; FEMALE; FETUS ECHOGRAPHY; GENETIC PREDISPOSITION; GENETICS; GESTATIONAL AGE; GLYCOGEN STORAGE DISEASE TYPE 2; HOMOZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; METHODOLOGY; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PREGNANCY; TIME; TREATMENT OUTCOME; TWINS;

ALPHA-GLUCOSIDASES; CARDIOMYOPATHY, HYPERTROPHIC; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY; ENZYME REPLACEMENT THERAPY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GESTATIONAL AGE; GLYCOGEN STORAGE DISEASE TYPE II; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PREGNANCY; TIME FACTORS; TREATMENT OUTCOME; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 84855570602     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1000-0     Document Type: Article

References (20)

1. Allan L (2000) Antenatal diagnosis of heart disease. Heart 83:367-370. doi:10.1136/heart.83.3.367.
2. Ansong AK, Li JS, Nozik-Grayck E, et al (2006) Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med 8:297-301. doi:10.1097/01.gim. 0000195896.04069.5f.
3. Chien YH, Chiang SC, Zhang XK, et al (2008) Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122(1):e39-45. Epub 2008 Jun. 2.
4. Fesslova' V, Nava S, Villa L (1999) Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: Italian multicentre study. Fetal Cardiology Study Group of the Italian Society of Pediatric Cardiology. Heart 82:594-599.
5. Fowler DJ, Anderson G, Vellodi A, Malone M, Sebire NJ (2007) Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders. Ultrastruct Pathol 31:15-21. doi:10.1080/01913120601169469.
6. Friedman DM, Kim MY, Copel JA, et al (2008) Utility of cardiac monitoring in fetuses at risk for congenital heart block: the PR Interval and Dexamethasone Evaluation (PRIDE) prospective study. Circulation 117:485-493. doi:10.1161/CIRCULATIONAHA.107.707661.
7. Gottesman GS, Hoffmann JW, Vogler C, Chen SC (1999) Hypertrophic cardiomyopathy in a newborn infant. J Pediatr 134:114-118. doi:10.1016/S0022- 3476 (99) 70384-7.
8. Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3389-3420.
9. Howell RR, Byrne B, Darras BT, Kishnani P, Nicolino M, Van Der Ploeg A (2006) Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med 8:289-296. doi:10.1097/01.gim.0000204462.42910. b8.
10. Hug G, Soukup S, Ryan M, Chuck G (1984) Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells. N Engl J Med 310:1018-1022.
11. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D (2006a) Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148:671-676. doi:10.1016/j.jpeds.2005.11.033.
12. Kishnani PS, Steiner RD, Bali D, et al (2006b) Pompe disease diagnosis and management guideline. Genet Med 8:267-288. doi:10.1097/01.gim.0000218152. 87434.f3.
13. Kishnani PS, Corzo D, Nicolino M, et al (2007) Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68:99-109. doi:10.1212/01.wnl.0000251268.41188.04.
14. Kleijer WJ, Van Der Kraan M, Kroos MA, et al (1995) Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis? Pediatr Res 38:103-106. doi:10.1203/00006450-199507000-00018.
15. Kroos M, Pomponio RJ, Van Vliet L, et al (2008) Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 29:E13-26. doi:10.1002/humu.20745.
16. Millaire M, Bujold E, Morency AM, Gauthier RJ (2006) Mid-trimester genetic amniocentesis in twin pregnancy and the risk of fetal loss. J Obstet Gynaecol Can 28:512-518.
17. Odibo AO, Gray DL, Dicke JM, Stamilio DM, Macones GA, Crane JP (2008) Revisiting the fetal loss rate after secondtrimester genetic amniocentesis: a single center's 16-year experience. Obstet Gynecol 111:589-595.
18. Pedra SR, Smallhorn JF, Ryan G, et al (2002) Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome. Circulation 106:585-591. doi:10.1161/01. CIR.0000023900.58293. FE.
19. Phupong V, Shuangshoti S, Sutthiruangwong P, Maneesri S, Nuayboonma P, Shotelersuk V (2005) Prenatal diagnosis of Pompe disease by electron microscopy. Arch Gynecol Obstet 271:259-261.
20. Van Den Hout HM, Hop W, Van Diggelen OP, et al (2003) The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 112:332-340. doi:10.1542/peds.112.2.332.