Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease.

Abstract

An 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 gangliosides.

• Authors: T E Kelly, G Graetz
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 1 Issue 1 Pg. 31-46 ( 1977) ISSN: 0148-7299 [Print] United States
• PMID: 610425 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Sialic Acids
• Hydrolases
• Neuraminidase

Topics

• Bone Marrow (metabolism)
• Bone Marrow Cells
• Bone and Bones (diagnostic imaging)
• Carbohydrate Metabolism, Inborn Errors (diagnosis)
• Cells, Cultured
• Female
• Follow-Up Studies
• Humans
• Hydrolases (metabolism)
• Infant
• Lysosomes (enzymology)
• Neuraminidase (deficiency, genetics)
• Phenotype
• Radiography
• Sialic Acids (metabolism)
• Skin (enzymology)