Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease
作者:
Thaddeus E. Kelly,
Geoffrey Graetz,
J. M. Opitz,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1977)
卷期:
Volume 1,
issue 1
页码: 31-46
ISSN:0148-7299
年代: 1977
DOI:10.1002/ajmg.1320010105
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: lysosomal storage disease;dysostosis multiplex;Hurler‐like phenotype;acid neuraminidase;glycoprotein;keratan sulfate;gangliosides;mucolipidosis
数据来源: WILEY
摘要:
AbstractAn 8‐month‐old female presented with coarse facies and hepatosplenomegaly at birth. Growth proceeded at an accelerated rate and mental development was normal. A pattern of dysostosis multiplex developed radiographically. Cytoplasmic inclusions consistent with lysosomal storage disease were demonstrated by electron microscopy in bone marrow, liver, and cartilage cells and in cultured skin fibroblasts. Assays of the fibroblasts revealed a specific deficiency of acid neuraminidase and 6‐fold increase in intracellular bound sialic acid. An unidentified macromolecular compound rich in sialic acid was excreted in excessive amounts in the urine. The phenotype suggests defective degradation primarily of glycoproteins and possibly to a lesser extent of keratan sulfate and ganglio
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