Abstract
Objective: We aim to present our experience with infantile Pompe disease with focus on the impact of availability of treatment on awareness, diagnosis, and management of such patients.
Method: Case – review study of patients diagnosed with infantile Pompe disease and literature search.
Results: We identified five cases of infantile Pompe disease. The first was diagnosed by muscle biopsy; all others were diagnosed by enzyme assay on peripheral blood lymphocytes or dried blood spot. There was no determination of the CRIM status on these patients. Two have died at a much later age than the reported median age of death for untreated cases. One died very early at 2 months of age with severe cardiomyopathy and had received only one dose of enzyme replacement therapy (ERT). The remaining two surviving patients are siblings: the younger was diagnosed by prenatal ultrasound screening and started on ERT at 24 h of age; she is the youngest treated patient in our case series.
Conclusion: The natural history of infantile Pompe disease is changing, so are the challenges of managing these infants in the post- ERT era. Currently, increased awareness and early access to therapy provide the best outcomes and incur the least shift of burden from mortality to morbidity.
Disclosure: Authors have received travel support to attend scientific symposiums by Genzyme. WF has also received consulting fees for speaking in a scientific symposium by Genzyme.
Competing interests: None declared
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Al-Gazali LI, Bener A, Abdulrazzaq YM et al (1997) Consanguineous marriages in the United Arab Emirates. J Biosoc sci 29(4):491–497, Oct
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, Jul
Hamdan MA, Almalik MH, Mirghani HM (2008) Early administration of enzyme replacement therapy for Pompe disease: Short-term follow-up results. J Inherit Metab Dis. Dec 12, Suppl 2:S431-6. Epub 2008 Dec 12
Hamdan MA, El-Zoabi BA, Begam MA, et al (2010) Antenatal diagnosis of Pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy. J inherit Metab Dis. Sep 4, (Epub ahead of print)
Kanters TA, Hagemans ML, Van der Beek NA, et al (2011) Burden of illness of Pompe disease in patients only receiving supportive care J Inherit Metab Dis. 34(5):1045–1052. Epub 2011 Apr 16
Kishnani PS, Corzo D, Leslie ND et al (2009) Early treatment with alglucosidase alfa prolongs long term survival of infants with Pompe disease. Pediatric Res 66:329–335
Koeberl DD et al (2011) Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6- phosphate receptor expression in skeletal muscle. Mol. Genet. Metab. 103(2):107–112
Metzl JD, Elias ER, Berul CI (1999) An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe’s disease. Pacing Clin Electrophysiol 22:821–822
Pompe J-C (1932) Over idiopatische hypertropie van het hart. Ned Tijdscr Geneeskd 76:304
Smith WE, Sullivan-Saarela JA, Li JS et al (2007) Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A 143A(21):2493–2501, Nov 1
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(2):332–340, Aug
Wang LY, Ross AK, Li JS et al (2007) Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series. Paediatr Anaesth 17(8):738–748, Aug
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Verena Peters
Rights and permissions
Copyright information
© 2012 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Fathalla, W., Ahmed, E. (2012). The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Case and Research Reports, 2012/5. JIMD Reports, vol 8. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_148
Download citation
DOI: https://doi.org/10.1007/8904_2012_148
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-33432-0
Online ISBN: 978-3-642-33433-7
eBook Packages: MedicineMedicine (R0)