| 3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. | |
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MedLine Citation:
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PMID: 7510656 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Eleven new patients of Iraqi-Jewish origin with bilateral optic atrophy, neurological abnormalities ('optic atrophy plus' syndrome) and 3-methylglutaconic aciduria (type III) are described. Clinical abnormalities in decreasing order of frequency were bilateral optic atrophy, extrapyramidal signs, spasticity, ataxia, dysarthria and cognitive deficit. An association with age was found only for spasticity. Spasticity, extrapyramidal signs and optic atrophy frequently led to major disability, in contrast to ataxia, dysarthria and cognitive deficit. The combined excretion of 3-methylglutaconic and 3-methylglutaric acid ranged between 9 and 187 mmol/mol creatinine. The primary enzymatic defect possibly may reside in the mitochondrial respiratory chain. |
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Authors:
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O N Elpeleg; H Costeff; A Joseph; Y Shental; R Weitz; K M Gibson |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Developmental medicine and child neurology Volume: 36 ISSN: 0012-1622 ISO Abbreviation: Dev Med Child Neurol Publication Date: 1994 Feb |
Date Detail:
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Created Date: 1994-04-21 Completed Date: 1994-04-21 Revised Date: 2009-11-11 |
Medline Journal Info:
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Nlm Unique ID: 0006761 Medline TA: Dev Med Child Neurol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 167-72 Citation Subset: IM |
Affiliation:
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Metabolic Unit, Shaare Zedek Medical Center, Jerusalem, Israel. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Cognition Disorders / ethnology, urine Female Glutarates / urine* Humans Iraq Jews* Male Meglutol / analogs & derivatives, urine Movement Disorders / ethnology*, urine Optic Atrophy / ethnology*, urine Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Glutarates; 503-49-1/Meglutol; 5746-90-7/3-methylglutaconic acid; 626-51-7/3-methylglutaric acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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