Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0033377 (
prolapse
)
11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5. 1689 26
