Anderson-Fabry disease

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Anderson-Fabry disease” (Acta Med Croatica. 2006;60(1):55-8). Authors are Kes P, Basic-Jukic N, Brunetta B et al., from the Zavod za dijalizu, Klinicki bolnicki centar Zagreb, Hrvatska. Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. The deficiency of alpha-galactosidase activity leads to progressive, abnormal accumulation of neutral glycosphingolipids in the lysosome. With increasing age globotriaosylceramide (Gb3) progressively accumulates in different cells, tissues and organs throughout the body. The overall prevalence of Anderson-Fabry disease is 1:117.000 or 1: 40.000 in (male) population. Typically, the clinical onset of Anderson-Fabry disease occurs during childhood or adolescence, with early symptoms of neuropathic pain (recurrent episodes of severe pain in the extremities), angiokeratomas (characteristic cutaneous lesions), oedematous upper eyelids, peripheral vasospasm and ophthalmological abnormalities. To access the full abstract of the article, click here.