Mucolipidosis I--a sialidosis.
Mucolipidosis I--a sialidosis.
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粘脂沉积症 I——唾液酸沉积症。
DOI：
10.1002/ajmg.1320010104
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发表时间：
1977
期刊：
影响因子：
--
通讯作者：
M. Cantz
中科院分区：
文献类型：
--
作者：
J. Sphranger;J. Gehler;M. Cantz
粘脂沉积症I的特征是Hurler样特征和骨骼发育不良，伴有樱桃红黄斑点和涉及神经元细胞和髓磷脂的神经变性体征。在培养的成纤维细胞、白细胞和1例临床表型为粘脂沉积症I型的患者的尿液中发现了过量的含唾液酸化合物。在培养的成纤维细胞中，发现α-N-乙酰神经氨酸酶（唾液酸酶）的活性显著降低，因此粘脂沉积症I型似乎是一种由神经氨酸酶遗传缺陷引起的复杂碳水化合物代谢紊乱。
Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an alpha-N-acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.