Elsevier

The Lancet

Volume 356, Issue 9227, 29 July 2000, Pages 397-398
The Lancet

Research Letters
Recombinant human α-glucosidase from rabbit milk in Pompe patients

https://doi.org/10.1016/S0140-6736(00)02533-2Get rights and content

Summary

Pompe's disease is a fatal muscular disorder caused by lysosomal α-glucosidase deficiency. In an open-label study, four babies with characteristic cardiomyopathy were treated with recombinant human α-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 α-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.

References (4)

  • R Hirschhorn

    Glycogen storage disease type II: acid α‐glucosidase (acid maltase) deficiency

  • M Fuller et al.

    Isolation and characterisation of a recombinant precursor form of lysosomal acid α‐glucosidase

    Eur J Biochem

    (1995)
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