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Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis.
A method is described for the detection of abnormal oligosaccharides in a small (5 ml) volume of urine, employing filtration on a Bio Gel P-6 column, determination of neutral sugar and bound sialic acid, and determination of creatinine content. With this method increased urinary excretion of sialic acid-rich oligosaccharides has been detected in nine patients with mucolipidoses (five cases of mucolipidosis II and four patients of mucolipidosis, with beta-galactosidase deficiency). The filtration patterns of oligosaccharides in mucolipidoses were clearly distinguishable from those in other inborn errors of metabolism. Total excreted oligosaccharides were increased 5--30-fold in these patients; mucolipidosis II, 640--1350 microgram neutral sugar/mg creatinine; control 54 +/- 20 microgram neutral sugar/mg creatinine. The oligosaccharides consisted of three sialic acid-rich fractions and were common in both types of mucolipidosis. Our data indicate that hypersialyoligosacchariduria is the main biochemical feature of both types of mucolipidosis.
PMID: 657539 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H, d'Azzo A.
EMBO J. 1991 Dec; 10(13):4041-8.
[EMBO J. 1991]
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Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides.
Gravel RA, Lowden JA, Callahan JW, Wolfe LS, Ng Yin Kin NM.
Am J Hum Genet. 1979 Nov; 31(6):669-79.
[Am J Hum Genet. 1979]
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ReviewSialidosis: a review of human neuraminidase deficiency.
Lowden JA, O'Brien JS.
Am J Hum Genet. 1979 Jan; 31(1):1-18.
[Am J Hum Genet. 1979]