l-2-hydroxyglutaric aciduria is a diagnostic indicator of leukodystrophy: a case report
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چکیده
how to cite this article: ashrafi mr, nikkhah a, houshmand m, aryani o. l-2-hydroxyglutaric aciduria is a diagnostic indicator of leukodystrophy: a casereport iranian journal of child neurology 2011;5(4):37-38. l-2-hydroxyglutaric aciduria is a rare autosomal recessive inherited neurometabolic disorder.it is characterized by slow progressive neurological dysfunction with cerebellar ataxia, pyramidal and extrapyramidal signs, intellectual decline, and seizures. herein, we report a case of a 7-year-old boy from tehran whose symptoms and signs indicated leukoencephalopathy with macrocephaly and motor delay. references 1. barth pg, hoffmann gf, jaeken j, lehnert w, hanefeld f, van gennip ah, et al. l-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. ann neurol 1992;32(1):66-71. 2. duran m, kamerling jp, bakker hd, van gennip ah, wadman s. l-2-hydroxyglutaric aciduria: an inborn error of metabolism? j inherit metab dis 1980;3(4):109-12. 3. haliloglu g, jobard f, oguz kk, anlar b, akalan n, coskun t, et al. l-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the l2hgdh gene: neuroimaging findings. neuropediatrics 2008;39(2):119-22. 4. de klerk jb, huijmans jg, stroink h, robben sg, jakobs c, duran m. l-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship. neuropediatrics 1997;28(6):314-7. 5. fenichel gm. clinical pediatric neurology: a signs and symptoms approach. saunders:elsevier, 2009. 6. diogo l, fineza i, canha j, borges l, cardoso ml, vilarinho l. macrocephaly as the presenting feature of l-2-hydroxyglutaric aciduria in a 5-month-old boy. j inherit metab dis 1996;19(3):369-70. 7. rzem r, van schaftingen e, veiga-da-cunha m. the gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. biochimie 2006;88(1):113-6. 8. shafeghati y, vakili g, entezari a. l-2-hydroxyglutaric aciduria: a report of six cases and review of the literature. arch iran med 2006;9(2):165-9.
منابع مشابه
L-2-Hydroxyglutaric aciduria: a case report.
INTRODUCTION L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma. In this condition clinical features mainly consist of mental deterioration, ataxia and motor deficits. CASE OUTLINE The patient is a 16-year-old girl, the fi...
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BACKGROUND D-2-Hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and the combined D/L-2-hydroxyglutaric aciduria (D/L-2-HGA) are poorly understood organic acidurias. To investigate the usefulness of cultured human skin fibroblasts for both diagnostic and research purposes, we measured disease-related metabolites in the cell culture medium. METHODS We measured D-2-hyd...
متن کاملWriter’s cramp as a presentation of L-2-hydroxyglutaric aciduria
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متن کاملL-2-hydroxyglutaric aciduria: a report of six cases and review of the literature.
L-2-hydroxyglutaric aciduria is a rare and novel autosomal recessive inherited neurometabolic disorder. Since its first description by Duran in 1980, less than 100 cases have so far been reported. Occurring mostly in childhood, it is characterized by slowly progressive neurological dysfunction with cerebellar ataxia, pyramidal signs, intellectual decline, seizure, and extrapyramidal symptoms. M...
متن کاملA gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.
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متن کاملL-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.
BACKGROUND l-2-Hydroxyglutaric aciduria is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. To our knowledge, only 1 complete report of the neuropathological findings in an adult has been published. OBJECTIVE To present the clinical, neuroimaging, and neuropathological findings of l-2-hydroxyglutaric aciduria. DESIGN Case report...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۵، شماره ۴، صفحات ۳۷-۳۸
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