Document Detail

Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.
MedLine Citation:
PMID:  19966354     Owner:  NLM     Status:  In-Process    
Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replacement therapy has recently become available and has been shown to be effective in prolonging survival and improving respiratory performance. In this article, we report a case of infantile-onset Pompe disease successfully managed with enzyme replacement therapy during the critical period. We would like to highlight the occurrence of sudden cardiac arrest in our patient during the early course of enzyme replacement therapy, which has not been reported before. A novel mutation was also identified in the family.
W M But; S H Lee; Angel O K Chan; Gene T C Lau
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine     Volume:  15     ISSN:  1024-2708     ISO Abbreviation:  Hong Kong Med J     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-12-07     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9512509     Medline TA:  Hong Kong Med J     Country:  China    
Other Details:
Languages:  eng     Pagination:  474-7     Citation Subset:  IM    
Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, Kowloon, Hong Kong.
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