| Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria. | |
| | |
MedLine Citation:
|
PMID: 3096875 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Two female patients of German origin, aged 38 and 21 years, with myoclonus epilepsy and cerebellar ataxia, but without dysmorphic signs and dementia, were found to excrete normal amounts of sialyl oligosaccharides in their urine. The younger patient showed cherry red spots in her ocular fundi. The older patient had a brother with an autopsy-proven neuronal storage disease compatible with sialidosis, and in her rectal biopsy lamellar inclusion bodies were detected. Enzyme assays in cultured fibroblasts of both patients revealed a profound but incomplete deficiency of oligosaccharide sialidase activity and normal beta-galactosidase activity. Adult sialidosis was diagnosed in both patients. In their fibroblasts, moderate elevations of bound sialic acid could also be measured. The small residual sialidase activity, which in the older patient had a normal KM value, is considered responsible for the late onset and slow clinical course of the disease. It is concluded that in adult sialidosis the extraneural storage process can be difficult to demonstrate in terms of metabolite accumulation or excretion during the course of intraneuronal storage. |
| | |
Authors:
|
K Harzer; M Cantz; A C Sewell; S S Dhareshwar; W Roggendorf; R W Heckl; O Schofer; R Thumler; J Peiffer; W Schlote |
Related Documents
:
|
6820445 - Increased excretion of four acetyl-coa precursors during clinical episode of propionic ... 21564045 - Comparison of tracheal intubation with the airway scope or clarus video system in patie... 21596885 - Gastric sonography in the fasted surgical patient: a prospective descriptive study. 2125745 - The effect of l-glutamine and sodium intake in cystinuric patients. 23427395 - Effect of kidney-reinforcing, blood-activating and stasis-removing recipes on adhesion ... 17703145 - Clinical picture of craniopharyngioma in childhood. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Human genetics Volume: 74 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1986 Nov |
Date Detail:
|
Created Date: 1987-01-20 Completed Date: 1987-01-20 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY, WEST |
Other Details:
|
Languages: eng Pagination: 209-14 Citation Subset: IM |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Cells, Cultured Cerebellar Ataxia / enzymology, genetics*, urine Epilepsies, Myoclonic / enzymology, genetics*, urine Female Fibroblasts / analysis Humans Intestinal Mucosa / pathology Macula Lutea / pathology Male Middle Aged N-Acetylneuraminic Acid Neuraminidase / deficiency* Neurons / pathology Oligosaccharides / urine Sialic Acids / urine |
| Chemical | |
Reg. No./Substance:
|
0/Oligosaccharides; 0/Sialic Acids; 131-48-6/N-Acetylneuraminic Acid; EC 3.2.1.18/Neuraminidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: An overview of the Canadian health care experience.
Next Document: Phenotypic and functional characterization of human Leu1 (CD5) B cells.