Abstract • Isolated deficiency of the lysosomal hydrolase acid neuraminidase results in multisystem storage of sialic acid-rich oligosaccharides. Wide phenotypic diversity occurs within this biochemical defect. We studied three cases of an infantile form of mucolipidosis I in which the phenotype is dominated by severe Hurloid features. These patients excreted excessive amounts of sialic acid-rich oligosaccharides in their urine, and storage of similar compounds was shown in tissues and cultured fibroblasts. Cultured fibroblasts demonstrated an isolated deficiency of acid neuraminidase; β-galactosidase levels were normal. (Am J Dis Child 1981;135:703-708) References 1. Kelly TE, Graetz GS: Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease . Am J Med Genet 1977;1:31-46.Crossref 2. Spranger J, Gehler J, Cantz M: Mucolipidosis I: A sialidosis . Am J Med Genet 1977;1:21-29.Crossref 3. Cantz M, Gehler J, Spranger J: Mucolipidosis I: Increased sialic acid content and deficiency of an α-N-acetylneuraminidase in cultured fibroblasts . Biochem Biophys Res Comm 1977;74:732-738.Crossref 4. Thomas GH, Tipton RE, Ch'ien LT, et al: Sialidase (α-N-acetylneuraminidase deficiency: The enzyme defect in an adult with macular cherry red spots and myoclonus without dementia): A new autosomal recessive disorder . Clin Genet 1978;13:369-379.Crossref 5. Rapin I, Goldfischer S, Katzman R, et al: The cherry red spot-myoclonus syndrome . Ann Neurol 1978;3:234-242.Crossref 6. O'Brien JS: Neuraminidase deficiency in the cherry red spot-myoclonus syndrome . Biochem Biophys Res Commun 1977;79:1136-1140.Crossref 7. Spranger JW, Wiedemann HR: The genetic mucolipidosis: Diagnosis and differential diagnosis . Hum Genet 1970;9:113-139.Crossref 8. Taylor HA, Thomas GH, Miller CS, et al: Mucolipidosis III (pseudo-Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells . Clin Genet 1973;4:388-397.Crossref 9. Fratantoni JC, Hall CW, Neufeld EF: The defects of Hurler's and Hunter's syndromes, faulty degradation of mucopolysaccharides . Proc Natl Acad Sci USA 1968;60:669-706.Crossref 10. Thomas GH, Taylor HA, Reynolds LW, et al: Mucolipidosis III (pseudo-Hurler polydystrophy): Multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells . Pediatr Res 1973;7:751-756.Crossref 11. Hall CW, Neufeld EF: α-Iduronidase activity in cultured skin fibroblasts and amniotic fluid cells . Arch Biochem Biophys 1973;158:817-821.Crossref 12. McKusick VA, Howell RR, Hussels IE, et al: Allelism, nonallelism and genetic compounds among the mucopolysaccharidoses . Lancet 1972;1:993-996.Crossref 13. Durand P, Gatti R, Cavalieri S, et al: Sialidosis (mucolipidosis I) . Helv Paediatr Acta 1977;32:391-400. 14. Spranger JW, Wiedemann HR, Talksdorf M, et al: Lipomucopolysaccharidose . Z Kinderheilkd 1968;103:285-306.Crossref 15. Aylsworth AS, Thomas GH, Hood JL: The severe infantile form of neuraminidase deficiency, abstracted . Am J Hum Genet 1979;31:68A. 16. McKusick VA: Mendelian Inheritance in Man . Baltimore, The Johns Hopkins University Press, 1975, p 441. 17. Goldberg MF, Cotlier E, Fichenscher LG, et al: Macular cherry red spot, corneal clouding and β-galactosidase deficiency . Arch Intern Med 1971;128:387-398.Crossref 18. Berard M, Toga M, Bernard R, et al: Pathological findings in one case of neuronal and mesenchymal storage disease: Its relationship to lipidoses and to mucopolysaccharidoses . Pathol Europ 1968;3:172-183. 19. Strecker G, Hondi-Assah T, Fournet B, et al: 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 mucolipidosis.' Biochem Biophys Acta 1976;444:349-358.Crossref 20. O'Brien JS: Molecular genetics of GM: β-galactosidase . Clin Genet 1975;8:303-313.Crossref 21. Bach G, Zeigler M, Schaap T, et al: Mucolipidosis type IV: Ganglioside sialidase deficiency . Biochem Biophys Res Commun 1979;90:1341-1347.Crossref 22. Kelly TE: Hurler-like disorders in infancy . Clin Perinatol 1976;3:115-132.
American Journal of Diseases of Children – American Medical Association
Published: Aug 1, 1981
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