Aim: To report on the clinical and molecular aspects of Gaucher disease in New Zealand.
Methods: Patients known to have Gaucher disease were contacted and clinical information was recorded by questionnaire. Blood samples from affected individuals and their families provided DNA material for mutation analysis of disease causing alleles. Patients were assayed for beta-glucocerebrosidase, the enzyme deficiency which causes Gaucher disease.
Results: Twelve of 14 patients and 10 carriers were confirmed by DNA analysis. One asymptomatic individual was diagnosed. Four known mutations (N370S, 1444p, R463c and RecNcIl) and one unknown mutation were found from the 34 disease producing alleles that were identified. Of these, the L444P and N370S alleles were the most common. Most patients exhibited a clinical disorder typical of type 1 Gaucher disease. Two recent patients with severe neuropathic Gaucher disease had died in childhood. All patients showed a deficiency in beta-glucocerebrosidase.
Conclusion: Gaucher disease in New Zealand is represented in a small number of non Jewish individuals with varying severity. Identifiable mutations and clinical symptoms aid in expanding the Australasian picture of this well studied disease. Enzyme replacement therapy for these patients has recently commenced in New Zealand.