| L-2-hydroxyglutaric aciduria: report of four Turkish adult patients. | |
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MedLine Citation:
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PMID: 20065797 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: l-2-Hydroxyglutaric aciduria is a rare progressive neurometabolic disorder of childhood inherited as an autosomal recessive trait. Urine organic-acid screening is necessary for its diagnosis. Although it is a disorder of childhood, recently adult cases have been reported. CASES: Here we report 4 adult patients in whom diagnoses were established in adulthood. These patients had some interesting features. First, their diagnoses were delayed until adulthood because of mild clinical symptoms. In such cases, the typical MRI findings are the best diagnostic clue for l-2-Hydroxyglutaric aciduria. Second, there was a correlation between the severity of the clinical course and the extent of MRI findings. The cerebral white-matter lesions were diffuse and confluent on the MRI of 3 of the 4 patients, who also experienced a rapidly progressive clinical decline. Third, there were different clinical presentations even within the same family. CONCLUSIONS: For the evaluation of patients with symptoms referable to cerebellar, pyramidal, extrapyramidal, or cognitive impairment as well as seizures associated with subcortical white-matter and symmetrical dentate nuclei and basal ganglia involvement on MRI, urine organic acid analysis should be included in the evaluation, regardless of patient's age. |
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Authors:
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Hulya Karatas; Serap Saygi; Birgul Bastan; Amber Eker; Oguzhan Kursun; Yavuz Ayhan; Abdurrahman Ciger |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The neurologist Volume: 16 ISSN: 1074-7931 ISO Abbreviation: Neurologist Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2010-01-12 Completed Date: 2010-03-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9503763 Medline TA: Neurologist Country: United States |
Other Details:
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Languages: eng Pagination: 44-6 Citation Subset: IM |
Affiliation:
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Hacettepe University Institute of Neurological Sciences and Psychiatry, Ankara, Turkey. hulyak@hacettepe.edu.tr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brain / pathology* Diagnosis, Differential Disease Progression Female Glutamates / urine* Humans Magnetic Resonance Imaging Male Metabolism, Inborn Errors / diagnosis*, pathology*, urine Nerve Fibers, Myelinated / pathology Siblings Turkey Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Glutamates; 533-62-0/hydroxyglutamic acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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