A SUCCESSFULLY TREATED ADULT PATIENT WITH l-2-HYDROXYGLUTARIC ACIDURIA

Samuraki, Miharu; Komai, Kiyoto; Hasegawa, Yasuhiro; Kimura, Masahiko; Yamaguchi, Satoshi; Terada, Nobuhisa; Yamada, Masako

doi:10.1212/01.wnl.0000287141.90944.95

Cited by 45 publications

(32 citation statements)

References 5 publications

(9 reference statements)

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“…Two very recent reports indicate the possible therapeutic role of FAD [33], cofactor of the enzyme, and of its precursor riboflavin [46]. We could not confirm this observation in patient 2.…”

Section: Discussioncontrasting

confidence: 70%

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

et al. 2008

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Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11 months of age, during an intercurrent illness. Autopsy showed spongiform lesions in the subcortical white matter, in the basal ganglia, and in the dentate nuclei. Investigations in an older sister with developmental delay, ataxia, and tremor revealed L-2-hydroxyglutaric aciduria and subcortical white matter changes with hyperintensity of the basal ganglia and dentate nuclei at brain magnetic resonance imaging. Both children were homozygous for a splice site mutation in the L2HGDH gene. Sudden death has not been reported in association with L-2-hydroxyglutaric aciduria so far, but since this inborn error of metabolism is potentially treatable, early diagnosis may be important.

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Section: Discussioncontrasting

confidence: 70%

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

et al. 2008

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“…Increased incidence of brain tumors has been reported [Aghili et al, 2009;Haliloglu et al, 2008;Moroni et al, 2004]. Treatment of L2HGA is under investigation; case reports have described positive effects of flavin adenine dinucleotide sodium (FAD) in combination with levocarnitine chloride in one patient [Samuraki et al, 2008] and riboflavin, a precursor of FAD, in another patient [Yilmaz, 2009].…”

Section: Introductionmentioning

confidence: 99%

“…To date, 35 mutations throughout the L2HGDH gene have been published [Haliloglu et al, 2008;Jequier Gygax et al, 2009;Larnaout et al, 2008;O'Conner et al, 2009;Rzem et al, 2004;Samuraki et al, 2008;Sass et al, 2008;Topcu et al, 2004;Vilarinho et al, 2005;Zafeiriou et al, 2008]. In this article these mutations will be reviewed and we will report 35 novel mutations, detected by either direct sequence analysis, polymerase chain reaction (PCR), or multiplex ligation dependent probe amplification (MLPA).…”

Section: Introductionmentioning

confidence: 99%

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

et al. 2010

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L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH. About 200 patients with elevated concentrations of 2-hydroxyglutarate (2HG) in the urine were referred for chiral determination of 2HG and L2HGDH mutational analysis. All patients with increased L2HG (n 5 106; 83 families) were included. Clinical information on 61 patients was obtained via questionnaires. In 82 families the mutations were detected by direct sequence analysis and/or multiplex ligation dependent probe amplification (MLPA), including one case where MLPA was essential to detect the second allele. In another case RT-PCR followed by deep intronic sequencing was needed to detect the mutation. Thirty-five novel mutations as well as 35 reported mutations and 14 nondiseaserelated variants are reviewed and included in a novel Leiden Open source Variation Database (LOVD) for L2HGDH variants (http://www.LOVD.nl/L2HGDH). Every user can access the database and submit variants/ patients. Furthermore, we report on the phenotype, including neurological manifestations and urinary levels of L2HG, and we evaluate the phenotype-genotype relationship.

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“…There are less than 20 adult reports of L2HGA (average age at time of diagnosis 30; age range at time of diagnosis 18-57), with all patients having a history of developmental delay in childhood [1][2][3][4][5][6][7][8]. L2HGA typically presents in the first year of life with non-specific motor delay and later cognitive and motor developmental delay in childhood [1,9].…”

Section: Sirsmentioning

confidence: 99%