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Mucolipidosis I — A sialidosis

 

作者: J. Spranger,   J. Gehler,   M. Cantz,   J. M. Opitz,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1977）
卷期: Volume 1, issue 1  

页码: 21-29

 

ISSN:0148-7299

 

年代: 1977

 

DOI:10.1002/ajmg.1320010104

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: mucolipidosis I;CNS degenerative disease;dysostosis multiplex;sialidase deficiency;lysosomal hydrolase deficiency;complex carbohydrate catabolism;cultured fibroblasts;leukocytes

 

数据来源: WILEY

 

摘要:

AbstractMucolipidosis 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 α‐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 neu

 

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