甘露糖苷贮积症。临床与生化研究。

Milla P J, Black I E, Patrick A D, Hugh-Jones K, Oberholzer V

Arch Dis Child. 1977 Dec;52(12):937-42. doi: 10.1136/adc.52.12.937.

The clinical, radiological, and biochemical features of 2 male children with mannosidosis are described. Superficially they appeared to suffer from Hurler's syndrome, but the facies, eye signs, radiological and cytological features were atypical. Excess urinary oligosaccharides were found by thin-layer chromatography. The diagnosis was confirmed by determining the acidic alpha-mannosidase activity of leucocytes and cultured skin fibroblasts. Prenatal diagnosis is possible from cultured amniotic cells.

本文描述了2名患有甘露糖苷贮积症男童的临床、放射学和生化特征。表面上，他们似乎患有Hurler综合征，但面容、眼部体征、放射学和细胞学特征均不典型。通过薄层色谱法发现尿中寡糖过量。通过测定白细胞和培养的皮肤成纤维细胞的酸性α-甘露糖苷酶活性确诊。可从培养的羊水中进行产前诊断。