Abstract |
Pompe's disease is a fatal muscular disorder caused by lysosomal alpha-glucosidase deficiency. In an open-label study, four babies with characteristic cardiomyopathy were treated with recombinant human alpha-glucosidase ( rhGAA) from rabbit milk at starting doses of 15 mg/kg or 20 mg/kg, and later 40 mg/kg. The enzyme was generally well tolerated. Activity of alpha-glucosidase normalised in muscle. Tissue morphology and motor and cardiac function improved. The left-ventricular-mass index decreased significantly. We recommend early treatment. Long-term effects are being studied.
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Authors | H Van den Hout, A J Reuser, A G Vulto, M C Loonen, A Cromme-Dijkhuis, A T Van der Ploeg |
Journal | Lancet (London, England)
(Lancet)
Vol. 356
Issue 9227
Pg. 397-8
(Jul 29 2000)
ISSN: 0140-6736 [Print] England |
PMID | 10972374
(Publication Type: Letter, Research Support, Non-U.S. Gov't)
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Chemical References |
- Recombinant Proteins
- alpha-Glucosidases
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Topics |
- Animals
- Animals, Genetically Modified
- Cardiomyopathy, Hypertrophic
(complications, drug therapy)
- Glycogen Storage Disease Type II
(complications, drug therapy)
- Humans
- Milk
(chemistry)
- Rabbits
- Recombinant Proteins
(isolation & purification, therapeutic use)
- alpha-Glucosidases
(isolation & purification, therapeutic use)
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