| Selective death of immature neurons in methylmalonic acidemia of the neonate: a case report. | |
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MedLine Citation:
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PMID: 8442414 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the clinical and post-mortem findings in a 4-day-old female infant with methylmalonic acidemia (MMA) prematurely delivered at 36 weeks gestation. Complementation analysis revealed a defect in methylmalonyl-CoA mutase apoenzyme activity. There was selective cell death of immature neurons involving germinal matrix, migrating neuroblasts, and both external and internal granular cell layers of the cerebellum and dentate gyrus of the hippocampus. Karyorrhexis was also seen in the lymphoid follicles of spleen, lymph nodes and in the thymus. Additionally, the spinal nerve roots demonstrated optically empty spaces in their myelin sheaths due to adaxonal separation of their myelin lamellae. |
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Authors:
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J M Sum; J L Twiss; D S Horoupian |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Acta neuropathologica Volume: 85 ISSN: 0001-6322 ISO Abbreviation: Acta Neuropathol. Publication Date: 1993 |
Date Detail:
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Created Date: 1993-04-01 Completed Date: 1993-04-01 Revised Date: 2007-11-09 |
Medline Journal Info:
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Nlm Unique ID: 0412041 Medline TA: Acta Neuropathol Country: GERMANY |
Other Details:
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Languages: eng Pagination: 217-21 Citation Subset: IM |
Affiliation:
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Department of Neurology, Stanford University Medical Center, CA 94305. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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metabolism,
pathology* Brain / pathology Cell Death Female Humans Immunoenzyme Techniques Infant, Newborn Methylmalonic Acid / blood* Microscopy, Electron Neurons / pathology* Spinal Nerve Roots / pathology, ultrastructure Spleen / pathology |
| Chemical | |
Reg. No./Substance:
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516-05-2/Methylmalonic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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