To the Editor:
Gaucher disease results from an inherited deficiency of the lysosomal enzyme glucocerebrosidase . Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type I Gaucher disease is the most common form. The gene frequency is particularly elevated among Ashkenazic Jews and estimated to be 0.035 to 0.040 . Type 2 and type 3 Gaucher disease are rare with an estimated frequency of less than 1 in 500,000 and 100,000, respectively, in the population at large . In this study, we present the results of our mutation analysis on two type 2 and three type 3 Chinese Gaucher disease patients and the identification of a novel mutation in a sixth patient tentatively diagnosed as having the type 1 form.
Patients ST, KX, MC, WX, LR, and CH were referred to the Medical Genetics Clinic of Peking Union Medical College because of hepatosplenomegaly and hematological complications. The diagnosis of Gaucher disease was raised and confirmed biochemically by the demonstration of deficient (5.5 to 16.3% of normal) โค-glucosidase activities in cultured fibroblasts and the presence of Gaucher cells in the bone marrow aspirates. All of the patients had very early age of onset between age 1 to 2 years, except for patient MC who had anemia and visceral organ involvement at age 12 years. Patient ST was diagnosed as having the type 2 form at age 1 year because of neurological involvement, and she died 3 months later. Patients KX, MC, and WX were diagnosed as having the type 3 form. Their clinical presentations include anemia, splenomegaly, orthopedic complications and acute bone pain, and neurological involvement. Although patient LR suffers from severe hematological and orthopedic complications, he is tentatively diag-