Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease
- 1 January 1977
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 1 (1) , 31-46
- https://doi.org/10.1002/ajmg.1320010105
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.Keywords
This publication has 18 references indexed in Scilit:
- Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: “I cell disease” and two new types of mucolipidosisBiochimica et Biophysica Acta (BBA) - General Subjects, 1976
- Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblastsBiochemical and Biophysical Research Communications, 1976
- Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II)Biochemical and Biophysical Research Communications, 1975
- Molecular genetics of GM1β‐galactosidaseClinical Genetics, 1975
- A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblastsBiochemical and Biophysical Research Communications, 1974
- Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cellsClinical Genetics, 1973
- Parallelism of subcellular location of major particulate neuraminidase and gangliosides in rabbit brain cortexBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1973
- Analysis of in mucolipidosis II (I-cell disease)Clinica Chimica Acta; International Journal of Clinical Chemistry, 1973
- A hypothesis for I-cell disease: Defective hydrolases that do not enter lysosomesBiochemical and Biophysical Research Communications, 1972
- A chromogenic substrate for the investigation of neuraminidasesFEBS Letters, 1969