Levade T, Graber D, Flurin V, Delisle M B, Pieraggi M T, Testut M F, Carrière J P, Salvayre R
Laboratoire de Biochimie, Maladies Métaboliques, C.H.U. Rangueil, Toulouse, France.
Ann Neurol. 1994 Jan;35(1):116-9. doi: 10.1002/ana.410350119.
Human beta-mannosidosis is an inherited lysosomal storage disorder described in only seven families. We present a further case in a black African 14-year-old boy with severely deficient beta-mannosidase activity, bilateral thenar and hypothenar amyotrophy, electrophysiologically demonstrable demyelinating peripheral neuropathy, and cytoplasmic vacuolation of skin fibroblasts and lymphoid cells. The clinical and biochemical features of our patient are compared to those of previously reported patients.
人类β-甘露糖苷贮积症是一种遗传性溶酶体贮积病，仅在7个家族中有描述。我们报告了另一例病例，患者为一名14岁的非洲黑人男孩，其β-甘露糖苷酶活性严重缺乏，双侧大鱼际和小鱼际肌萎缩，电生理显示为脱髓鞘性周围神经病，皮肤成纤维细胞和淋巴细胞出现胞质空泡化。我们将该患者的临床和生化特征与先前报道的患者进行了比较。
