Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.
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Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5. / Brokalaki, E I; Hentschke, Moritz; Grabbe, S; Jansen, T.
in: EUR J MED RES, Jahrgang 11, Nr. 7, 7, 2006, S. 306-308.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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T1 - Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.
AU - Brokalaki, E I
AU - Hentschke, Moritz
AU - Grabbe, S
AU - Jansen, T
PY - 2006
Y1 - 2006
N2 - Fabry disease is an X-linked lysosomal disorder caused by deficiency of the lysosomal enzyme alpha-galactosidase A. We report on a 32-year-old female patient with an 8-year history of vascular lesions on the hips and periumbilical region and a presumed Fabry disease without positive family history. Ophthalmologic evaluation revealed whorl-like corneal opacities. Echocardiography revealed myxomatous degeneration and prolapse of the mitral valve. DNA analysis of the alpha-galactosidase A gene confirmed the diagnosis of Fabry disease, showing a de novo point mutation at position 691 of exon 5. The patient is now obtaining intravenous enzyme replacement therapy with agalsidase alfa and remains without drug-related reactions.
AB - Fabry disease is an X-linked lysosomal disorder caused by deficiency of the lysosomal enzyme alpha-galactosidase A. We report on a 32-year-old female patient with an 8-year history of vascular lesions on the hips and periumbilical region and a presumed Fabry disease without positive family history. Ophthalmologic evaluation revealed whorl-like corneal opacities. Echocardiography revealed myxomatous degeneration and prolapse of the mitral valve. DNA analysis of the alpha-galactosidase A gene confirmed the diagnosis of Fabry disease, showing a de novo point mutation at position 691 of exon 5. The patient is now obtaining intravenous enzyme replacement therapy with agalsidase alfa and remains without drug-related reactions.
M3 - SCORING: Zeitschriftenaufsatz
VL - 11
SP - 306
EP - 308
JO - EUR J MED RES
JF - EUR J MED RES
SN - 0949-2321
IS - 7
M1 - 7
ER -
