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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(s) -
Korpela Mari P.,
Paetau Anders,
Löfberg Mervi I.,
Timonen Marjut H.,
Lamminen Antti E.,
KiuruEnari Sari M.K.
Publication year - 2009
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21291
Subject(s) - enzyme replacement therapy , missense mutation , glycogen storage disease type ii , medicine , disease , muscle weakness , mutation , genetic heterogeneity , magnetic resonance imaging , age of onset , phenotype , endocrinology , pathology , gene , genetics , biology , radiology
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