Enzyme replacement therapy in an infant with Pompe's disease with severe cardiomyopathy

Journal of Pediatric Endocrinology and Metabolism

Volumn 22, Issue 12, 2009, Pages 1159-1162

  Tanzer, F ^a   Buyukkayhan, Derya ^a   Cansu Mutlu, E ^a   Kalender Korkmaz, F ^a  

^a CUMHURIYET UNIVERSITY   (Turkey)

Author keywords

Enzyme replacement; Infancy; Pompe's disease

Indexed keywords

ANTIBIOTIC AGENT; INFUSION FLUID; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; CARDIOMEGALY; CARDIOMYOPATHY; CASE REPORT; DRUG EFFICACY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ENZYME REPLACEMENT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LUNG INFECTION; MUSCLE HYPOTONIA; PHYSICAL EXAMINATION; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; TACHYPNEA; THORAX RADIOGRAPHY;

EID: 77349117774     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2009.22.12.1159     Document Type: Article

References (12)

1. Fayssoil A. Cardiomyopathy in Pompe's disease. Eur J Intern Med 2008; 19: 57-59.
2. Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet A, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, Vol III. New York, NY: McGraw-Hill, 2001; 3389-3420.
3. Hudgson P, Fulthorpe JJ. The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic study. J Pathol 1975; 116: 139-147.
4. Griffin JL. Infantile acid maltase deficiency. II. Muscle fiber hypertrophy and the ultrastructure of end-stage fibers. Virchows Arch B Cell Pathol Incl Mol Pathol. 1984; 45: 37-50.
5. Geel TM, McLauglin PMJ, de Leij LFMH, et al. Pompe disease: Current state of treatment modalities and animal models. Mol Genet Metab 2007; 92: 299-307.
6. Ausems MG, Verbiestem J, Hermans MP, et al. Frequency of glycogen storage disease type II in the Netherlands: implication for diagnosis and genetic counseling. Eur J Hum Genet 1999; 7: 713-716.
7. Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005; 15: 24-31.
8. Reuser AJ, Kroos MA, Hermans MM, et al. Glycogenosis type II (acid maltase deficiency). Muscle Nerve 1995; 3: S61-S69.
9. Slonim AE, Bulone L, Ritz S, et al. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 2000; 137: 283-285.
10. Amalfitano A, Bengur R, Morse RP, et al. Recombinant human acid alpha glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 2001; 3: 132-138.
11. Van den Hout H, Reuser AJJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000; 356: 397-398.
12. Van den Hout H, Reuser AJJ, de Klerk JBC, et al. Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis 2001 ;24: 267-275.