Chitayat D, Nakagawa S, Marion R W, Sachs G S, Shinnar S, Llena J F, Nitowsky H M
Department of Pediatrics (Division of Genetics), Montefiore Medical Center, Bronx, New York 10461.
J Inherit Metab Dis. 1987;10(2):111-4. doi: 10.1007/BF01800033.
We report a case of a black infant who died at 9 months of age with clinical and pathological findings consistent with the acute neuronopathic form of Gaucher disease (Type 2). Analysis of peripheral blood platelets obtained from this child demonstrated very low levels of beta-glucosidase activity. beta-hexosaminidase (HEX) activity in the serum, however, was 30 times greater than the level in control sera and 15 times greater than the level observed in individuals affected with the chronic form of Gaucher disease (Type 1). Similarly, alpha-D-mannosidase (MANN) activity in the proband's serum was significantly elevated when compared with controls, and chronic Gaucher disease patients. We postulate that the cause of the elevation of these lysosomal enzymes is similar to the cause of elevation in Type 1 individuals but that patients with Type 2 Gaucher disease have a more serious cellular defect.
我们报告一例9个月大的黑人婴儿死亡病例，其临床和病理表现符合戈谢病急性神经元病变型（2型）。对该患儿外周血血小板的分析显示，β-葡萄糖苷酶活性极低。然而，血清中的β-己糖胺酶（HEX）活性比对照血清中的水平高30倍，比慢性戈谢病（1型）患者观察到的水平高15倍。同样，与对照组和慢性戈谢病患者相比，先证者血清中的α-D-甘露糖苷酶（MANN）活性显著升高。我们推测，这些溶酶体酶升高的原因与1型个体升高的原因相似，但2型戈谢病患者存在更严重的细胞缺陷。
