The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE
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.
- 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 CrossRef
- 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 CrossRef
- 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 CrossRef
- 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 CrossRef
- 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 CrossRef
- 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 CrossRef
- 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 CrossRef
- The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE
- Book Title
- JIMD Reports - Case and Research Reports, 2012/5
- pp 7-10
- Print ISBN
- Online ISBN
- Series Title
- JIMD Reports
- Series Volume
- Series ISSN
- Springer Berlin Heidelberg
- Copyright Holder
- SSIEM and Springer-Verlag Berlin Heidelberg
- Additional Links
- Industry Sectors
- eBook Packages
- Editor Affiliations
- ID1. Sektionen für Humangenetik und Klinische, Medizinische Universität Innsbruck
- ID2. , Biological Sciences, Michigan Technological University
- ID3. , Department of Biochemistry, University of Oxford
- ID4. Medical Center, Department of Pediatrics, Radboud University Nijmegen
- ID5. Heidelberg University Hospital, Center for Child and Adolescent Medicine
- Author Affiliations
- 1. Division of Pediatric Neurology, Pediatric Institute, Sheikh Khalifa Medical City, 51900, Abu Dhabi, UAE
To view the rest of this content please follow the download PDF link above.