CLINICAL AND MOLECULAR ASPECTS OF GAUCHER-DISEASE IN NEW-ZEALAND

Aim. To report on the clinical and molecular aspects of Gaucher diseas e in New Zealand. Methods. Patients known to have Gaucher disease were contacted and clinical information was recorded by questionnaire. Blo od samples from affected individuals and their families provided DNA. material for mutation analysis of disease causing alleles. Patients we re assayed for beta-glucocerebrosidase, the enzyme deficiency which ca uses Gaucher disease. Results. Twelve of 14 patients and 10 carriers w ere confirmed by DNA analysis. One asymptomatic individual was diagnos ed. Four known mutations (N370S, 1444p, R463c and RecNcII) and one unk nown mutation were found from the 34 disease producing alleles that we re identified. Of these, the L444P and N370S alleles were the most com mon. Most patients exhibited a clinical disorder typical of type 1 Gau cher disease. Two recent patients with severe neuropathic Gaucher dise ase had died in childhood. All patients showed a deficiency in beta-gl ucocerebrosidase. Conclusion. Gaucher disease in New Zealand is repres ented in a small number of non Jewish individuals with varying severit y. Identifiable mutations and clinical symptoms aid in expanding the A ustralasian picture of this well studied disease. Enzyme replacement t herapy for these patients has recently commenced in New Zealand.