Journal
MUSCLE & NERVE
Volume 40, Issue 1, Pages 143-148Publisher
WILEY
DOI: 10.1002/mus.21291
Keywords
acid maltase deficiency; enzyme replacement therapy; late-onset Pompe disease; magnetic resonance spectroscopy; muscle magnetic resonance imaging
Categories
Ask authors/readers for more resources
Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid alpha-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 (YS75X), combined with a previously reported mutation, 1634C>T (P545L). Human recombinant a-glucosidase enzyme (alglucosiclase-alpha) 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 40: 143-148, 2009
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available