Abstract
Galactosaemia due to UDPgalactose 4-epimerase (GALE; EC 5.1.3.2) deficiency is known to be a relatively rare autosomal recessive disorder. Up to now it has been divided into two forms, an extremely rare generalized form with a severe clinical course and a benign peripheral form that is confined to red cells (Gitzelmann 1972; Holton et al 1981; Sardharwalla et al 1988; Segal and Berry 1995). There are, however, recent descriptions of patients with the peripheral form of GALE deficiency developing juvenile cataracts or mental retardation (Endres and Shin 1990; Schulpis et al 1993; Alano et al 1998). We report here expression of the GALE enzyme in various tissues, especially in the lens, and different clinical pictures in patients we have diagnosed during the last 5 years.
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Shin, Y.S., Korenke, GC., Huppke, P. et al. UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation. J Inherit Metab Dis 23, 383–386 (2000). https://doi.org/10.1023/A:1005699719068
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DOI: https://doi.org/10.1023/A:1005699719068