| Striatal degeneration and spongy myelinopathy in glutaric acidemia. | |
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MedLine Citation:
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PMID: 1564518 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The neuropathological findings in a 6 1/2-year-old boy with glutaric acidemia (GA) are described, and the pathology of 7 additional literature cases is briefly reviewed. Bilateral striatal degeneration and spongy change of the white matter were the salient features in this case and seem to represent the cardinal pathological features of the disease. Spongy myelinopathy was the result of intramyelinic vacuolation due to splitting of the myelin sheath along the intraperiod line, as illustrated here for the first time in GA. Based on morphological, biochemical and pharmacological data from humans and experimental animals, it is hypothesized that excitotoxin-mediated neuronal damage may account for the striatal degeneration, while toxic effect on myelin metabolism by the metabolic derangement of GA may explain the widespread white matter changes. |
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Authors:
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D Soffer; N Amir; O N Elpeleg; J M Gomori; R S Shalev; S Gottschalk-Sabag |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 107 ISSN: 0022-510X ISO Abbreviation: J. Neurol. Sci. Publication Date: 1992 Feb |
Date Detail:
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Created Date: 1992-05-21 Completed Date: 1992-05-21 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 199-204 Citation Subset: IM |
Affiliation:
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Department of Pathology, Hebrew University, Hadassah Medical School, Jerusalem, Israel. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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pathology* Autopsy Child Corpus Striatum / pathology*, ultrastructure Glutaryl-CoA Dehydrogenase Humans Magnetic Resonance Imaging Male Myelin Sheath / ultrastructure* Nerve Degeneration Optic Nerve / pathology, ultrastructure Oxidoreductases / deficiency* Oxidoreductases Acting on CH-CH Group Donors* Vacuoles / ultrastructure |
| Chemical | |
Reg. No./Substance:
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EC 1.-/Oxidoreductases; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC 1.3.99.7/Glutaryl-CoA Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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