| Epileptiform ocular movements with methylmalonic aciduria and homocystinuria. | |
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MedLine Citation:
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PMID: 7425038 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 7 1/2-year-old girl with a rare defect in cobalamin (vitamin B12) metabolism ("cobalamin C" type) developed epileptiform ocular and eyelid movements as the major clinical manifestation of the disease. One of three other patients who have been described with congenital syndrome was similarly noted to have "fluttering" of the eyelids interpreted as epileptic discharges. The metabolic abnormality produced a defect in synthesis of cobalamin coenzymes. It is characterized biochemically by the excreation of methylmalonic acid and homocystine in the urine. |
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Authors:
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D G Cogan; J Schulman; R J Porter; S H Mudd |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of ophthalmology Volume: 90 ISSN: 0002-9394 ISO Abbreviation: Am. J. Ophthalmol. Publication Date: 1980 Aug |
Date Detail:
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Created Date: 1980-12-18 Completed Date: 1980-12-18 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0370500 Medline TA: Am J Ophthalmol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 251-3 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Cobamides / metabolism Epilepsy / complications* Eye Movements* Eyelid Diseases / complications Female Homocystinuria / complications* Humans Malonates / urine* Metabolism, Inborn Errors / diagnosis, metabolism* Methylmalonic Acid / urine* Syndrome Vitamin B 12 / metabolism |
| Chemical | |
Reg. No./Substance:
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0/Cobamides; 0/Malonates; 516-05-2/Methylmalonic Acid; 68-19-9/Vitamin B 12 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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