| Neuraminidase deficiency presenting as non-immune hydrops fetalis. | |
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MedLine Citation:
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PMID: 6240403 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A newborn infant with oedema, ascites and hepatosplenomegaly is described. In ascites fluid foamy macrophages were found, in a liver biopsy cytoplasmic inclusions and membrane-bound vacuoles were seen. Furthermore the child excreted excessive amounts of sialic acid-rich oligosaccharides in the urine, and therefore a neurovisceral degenerative disorder was assumed. The diagnosis of sialidosis was confirmed by enzymatic assay in cultured fibroblasts, in which a complete deficiency of the lysosomal enzyme neuraminidase could be demonstrated. After recurrent septicaemias the child became dystrophic and died at the age of 6 months. Our case is compared with sialidosis observed by other authors, the wide phenotypic diversity within this biochemical defect is emphasised. The occurrence of hydrops fetalis in lysosomal storage diseases is discussed. |
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Authors:
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M Beck; S W Bender; H L Reiter; W Otto; R Bässler; H Dancygier; J Gehler |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: European journal of pediatrics Volume: 143 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 1984 Dec |
Date Detail:
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Created Date: 1985-03-07 Completed Date: 1985-03-07 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 135-9 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Edema
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etiology* Female Fibroblasts / enzymology Hexosaminidases / analysis Humans Infant, Newborn Leukocytes / enzymology Liver / pathology Lysosomes / enzymology* Mannosidases / analysis Mucolipidoses / diagnosis, pathology* Neuraminidase / analysis, deficiency* Oligosaccharides / urine alpha-L-Fucosidase / analysis alpha-Mannosidase beta-Galactosidase / analysis beta-N-Acetylhexosaminidases |
| Chemical | |
Reg. No./Substance:
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0/Oligosaccharides; EC 3.2.1.-/Hexosaminidases; EC 3.2.1.-/Mannosidases; EC 3.2.1.18/Neuraminidase; EC 3.2.1.23/beta-Galactosidase; EC 3.2.1.24/alpha-Mannosidase; EC 3.2.1.51/alpha-L-Fucosidase; EC 3.2.1.52/beta-N-Acetylhexosaminidases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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