| Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria. | |
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MedLine Citation:
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PMID: 18343698 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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L-2-hydroxyglutaric aciduria (LHGuria) is a rare neurometabolic disorder, which has characteristic clinical and laboratory features. The recent findings imply that LHG dehydrogenase is responsible for the disease and is FAD-dependent. Therefore, it might be expected that riboflavin could enhance any residual activity. We present our observations from nearly 2-year-long riboflavin treatment in a 16-year-old boy with LHGuria. During riboflavin treatment of 100 mg/d, partial improvement in his cognitive and motor performances was observed. Urinary LHG excretion decreased from 5990 mmol/mol creatinine to 1490 mmol/mol creatinine. Moreover, when riboflavin treatment was interrupted, significant disturbances in both symptoms and urinary LHG excretion (6360 mmol/mol creatinine) occurred in the patient. After the resettlement of riboflavine treatment, the patient resumed to his previous clinical status in a week. The improvement went further minimally under the dose of 200mg/d, but no further improvement happened with 300 mg/d. The present case suggests that riboflavin could be considered as a potential therapeutic approach in LHGuria until the optimal treatment of LHGuria is established. |
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Authors:
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Kutluhan Yilmaz |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-03-17 |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: 13 ISSN: 1532-2130 ISO Abbreviation: Eur. J. Paediatr. Neurol. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2008-12-19 Completed Date: 2009-03-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: England |
Other Details:
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Languages: eng Pagination: 57-60 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Faculty of Medicine, Gaziantep University, Turkey. drkutluhan@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Brain Diseases, Metabolic, Inborn / diagnosis, drug therapy*, physiopathology Cognition / drug effects, physiology Dose-Response Relationship, Drug Glutarates / urine* Humans Male Psychomotor Performance / drug effects, physiology Riboflavin / administration & dosage, therapeutic use* Treatment Outcome Vitamin B Complex / administration & dosage, therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/Glutarates; 12001-76-2/Vitamin B Complex; 2889-31-8/alpha-hydroxyglutarate; 83-88-5/Riboflavin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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