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Successful long‐term enzyme replacement therapy in a young adult with Fabry disease
Author(s) -
Kampmann C,
Kalkum G,
Beck M,
Whybra C
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2012.01916.x
Subject(s) - medicine , enzyme replacement therapy , fabry disease , pediatrics , lysosomal storage disease , disease , library science , computer science
To the Editor : Fabry disease (FD) is an X-linked lysosomal storage disorder with a deficiency of α-galactosidase A (AGLA), leading to accumulation of globotriaosylceramide (Gb3) mainly in the lysosomes. The clinical manifestations of FD show inter-individual variations, and the time between the onset of symptoms and a correct diagnosis is around 13 years (1), including symptoms such as hypohidrosis, pain, gastrointestinal complications, and hearing loss. With progression, complications such as cardiomyopathy, stroke and renal failure are common. Before the introduction of enzyme replacement therapy (ERT) in 2001 only symptomatic treatment was available. Post-marketing experience over the last years has shown to be beneficial (2, 3). We report a 28-year-old male patient, who has been treated with ERT using agalsidase alfa over 12 years. In 1998, the, then 27-year-old patient presented the first time at our center, suffering from pain crises