Highlights
- •We screened 108 myopathy patients for late-onset Pompe disease in Finland.
- •The screening did not reveal new Pompe patients.
- •Pompe disease is extremely rare in Finland.
Abstract
Pompe disease (glycogen storage disease type II) is caused by autosomal recessive
mutations in GAA gene. The estimated frequency of late-onset Pompe disease is around 1:60,000. However,
only two infantile and one late-onset Pompe patients have been reported in Finland
with a population of 5 million. We screened for late-onset Pompe disease in a cohort
of undetermined myopathy patients with proximal muscle weakness and/or elevated serum
creatine kinase values. Acid α-glucosidase (GAA) activity in dried blood spots was
measured and clinical data collected in 108 patients. Four patients had low normal
GAA activity; all the others had activities well within the normal range. Re-analyses
of these patients did not reveal new Pompe patients. Our findings suggest that Pompe
disease is extremely rare in Finland. Finland is an example of an isolated population
with enrichment of certain mutations for genetic disorders and low occurrence of some
autosomal recessive diseases.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Neuromuscular DisordersAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Pompe disease diagnosis and management guideline.Genet Med. 2006; 8: 267-288
Leslie N, Tinkle BT. Glycogen storage disease type II (Pompe Disease) In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): Seattle, University of Washington; 1993–2013. 2007 Aug 31 [updated 2013 May 09].
- Pompe disease in infants and children.J Pediatr. 2004; 144: 35-43
- Pompe disease: design, methodology, and early findings from the Pompe Registry.Mol Genet Metab. 2011; 103: 1-11
- AANEM consensus committee on late-onset Pompe disease: AANEM consensus committee on late-onset Pompe disease. consensus treatment recommendations for late-onset Pompe disease.Muscle Nerve. 2012; 45: 319-333
- Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.Genet Med. 2006; 8: 302-306
- Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.J Chromatogr B Analyt Technol Biomed Life Sci. 2012; 908: 9-17
- Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling.Eur J Hum Genet. 1999; 7: 713-716
- Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.Am J Med Genet. 1998; 79: 69-72
- Pompe’s disease or glycogen storage disease.Duodecim. 1982; 98 ([Finnish]): 709-716
- A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.Muscle Nerve. 2009; 40: 143-148
- Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.Clin Chim Acta. 2004; 347: 97-102
- Pompe disease diagnostic working group methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.Mol Genet Metab. 2008; 93: 275-281
Bodamer OA, Dajnoki A. Diagnosing lysosomal storage disorders: Pompe disease. Curr Protoc Hum Genet 2012 Oct; Chapter 17, Unit 17.
- Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.Mol Genet Metab. 2013; 110: 287-289
- Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.J Med Genet. 1995; 32: 836-837
- Disease gene mapping in isolated human populations: the example of Finland.J Med Genet. 1993; 30: 857-865
- Hereditary diseases in Finland; rare flora in rare soil.Ann Clin Res. 1973; 5: 109-141
Article info
Publication history
Published online: June 28, 2014
Accepted:
June 20,
2014
Received in revised form:
May 15,
2014
Received:
March 28,
2014
Identification
Copyright
© 2014 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
