A novel mutation of the GAA gene in a Finnish late-onset pompe disease patient: Clinical phenotype and follow-up with enzyme replacement therapy
✍ Scribed by Mari P. Korpela; Anders Paetau; Mervi I. Löfberg; Marjut H. Timonen; Antti E. Lamminen; Sari M.K. Kiuru-Enari
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 139 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0148-639X
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✦ Synopsis
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