INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV

我们继续对新的六糖进行表征， 存在于粘脂沉积症患者和女性携带者的尿液中 四. 我们现在知道它是一种不寻常的含岩藻糖的 低聚糖。 我们将确定其完整的结构和尝试 来了解它的代谢来源 我们发现这些病人是胃酸缺乏的， 血清中胃泌素水平升高 生殖器旁细胞 在活组织检查中，负责酸分泌的细胞具有扭曲的形态 从IV型粘脂沉积症患者获得。 我们相信这些 异常有助于粘脂沉积症IV的病因，我们是 试图阐明这种遗传性疾病中的特定生化损伤， disorder.

We have continued our characterization of the novel hexasaccharide that is present in the urine of patients and female carriers of mucolipidosis IV. We now know that it is an unusual fucose-containing oligosaccharide. We shall determine its complete structure and attempt to learn its metabolic origin. We have found that these patients are achlorhydric and that they have elevated levels of gastrin in their sera. Pareital cells that are responsible for acid secretion have a distorted morphology in biopsies obtained from patients with mucolipidosis IV. We believe these abnormalities contribute to the etiology of mucolipidosis IV, and we are trying to elucidate the specific biochemical lesion in this hereditary disorder.