Louis J J, Maire I, Hermier M, Nicolas A, Guibaud P
J Genet Hum. 1983 Jun;31(2):79-91.
The authors describe a case of mucolipidosis I, the 9th reported in the world literature. The diagnosis was suspected in a 5 year old boy, from the appearance of hurler-like facial features. Lumbar kyphosis, dysostosis multiplex, cherry-red macular spot and foam cells in the bone marrow and it was confirmed by the characteristic oligosacchariduria (on thin layer chromatography) and excess sialic acid in cultured fibroblasts which also showed profoundly diminished activity of alpha D Neuraminidase (on two substrates - N-acetyl-Neuramin Lactose and 4 Methyl umbelliferyl N-acetyl-Neuraminide). The parents had intermediate enzyme activities, suggesting heterozygotism. After a review of the literature, the authors attempt to define the place of mucolipidosis I in the sialidoses.
作者描述了1例黏脂贮积症I型病例，这是世界文献中报道的第9例。一名5岁男孩因出现类Hurler面容而被怀疑患有该病。其存在腰椎后凸、多发性骨发育异常、樱桃红斑以及骨髓中的泡沫细胞，通过特征性的低聚糖尿症（薄层色谱法）和培养成纤维细胞中唾液酸过量得以确诊，培养的成纤维细胞还显示α-D神经氨酸酶活性显著降低（在两种底物——N-乙酰神经氨酸乳糖和4-甲基伞形酮基-N-乙酰神经氨酸苷上）。患儿父母的酶活性处于中间水平，提示为杂合子状态。在回顾文献后，作者试图明确黏脂贮积症I型在唾液酸沉积症中的地位。
