1. A novel mutation of the GAA gene in a Finnish late-onset pompe disease patient: Clinical phenotype and follow-up with enzyme replacement therapy.
- Author
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Korpela, Mari P., Paetau, Anders, Löfberg, Mervi I., Timonen, Marjut H., Lamminen, Antti E., and Kiuru-Enari, Sari M.K.
- Abstract
Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α-glucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the late-onset form of Pompe disease. Molecular genetic analysis of the GAA gene revealed a novel missense mutation, 1725C>A (Y575X), combined with a previously reported mutation, 1634C>T (P545L). Human recombinant α-glucosidase enzyme (alglucosidase-α) treatment was initiated for this patient at age 20 years. After 12 months she was no longer fully wheelchair-bound, and muscle strength had improved. No disease progression was visible on muscle magnetic resonance imaging of the lower limbs, and the energy state of the muscle cells increased by 46% on phosphorus magnetic resonance spectroscopy. Overall, our findings suggest that enzyme replacement therapy is indicated, even in patients with late-onset Pompe disease, to halt disease progression and improve the quality of daily life. Muscle Nerve, 2009 [ABSTRACT FROM AUTHOR]
- Published
- 2009
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