 |
 |
HK J Paediatr (New Series)
Vol 14. No. 4,
2009
|
|
HK J Paediatr (New Series) 2009;14:243-251
Original Article
Variable Response to Enzyme Replacement Therapy in Two Chinese Children with Infantile-onset Pompe Disease in Hong Kong
GWK Poon, AMK Kwok, PT Cheung, Tc Yung, YK Ng, NS Tsoi, KY Wong, LCK Low Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, 102 Pokfulam Road, Pokfulam, Hong Kong, China GWK Poon (潘永潔) FHKCPaed, FHKAM(Paed) AMK Kwok (郭美均) FHKCPaed, FHKAM(Paed) PT Cheung (張璧濤) FHKCPaed, FHKAM(Paed) TC Yung (翁德璋) FHKCPaed, FHKAM(Paed) YK Ng (吳耀基) FHKCPaed, FHKAM(Paed) NS Tsoi (蔡廼舜) FHKCPaed, FHKAM(Paed) KY Wong (黃嘉賢) FHKCPaed, FHKAM(Paed) LCK Low (盧忠啟) FHKCPaed, FHKAM(Paed) Correspondence to: Dr GWK Poon Received March 25, 2009
Abstract Pompe disease, a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase, results in lysosomal accumulation of glycogen in multiple tissues, primarily affecting muscles. Infantile-onset Pompe disease is characterised by generalised muscle weakness, hypotonia and lethal cardiomyopathy, resulting in death within the first year of life. The advent of enzyme replacement therapy has changed the natural history of the disease. We report our experience of the use of recombinant human acid alpha-glucosidase in the treatment of two Chinese patients with infantile-onset Pompe disease in Hong Kong. Keyword : Chinese; Enzyme replacement; Pompe disease Abstract in Chinese
|
|
 |