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Page 1
Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Veiga-da-Cunha M, et al. J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31691304 Free PMC article. Review.
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutrope …
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2 …
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.
Van Schaftingen E, Rzem R, Veiga-da-Cunha M. Van Schaftingen E, et al. J Inherit Metab Dis. 2009 Apr;32(2):135-42. doi: 10.1007/s10545-008-1042-3. Epub 2008 Nov 21. J Inherit Metab Dis. 2009. PMID: 19020988 Review.
The neurometabolic disorder L: -2-hydroxyglutaric aciduria is caused by mutations in a gene present on chromosome 14q22.1 and encoding L: -2-hydroxyglutarate dehydrogenase. ...Its accumulation is toxic to the mammalian brain, causing a leukoencephalopa …
The neurometabolic disorder L: -2-hydroxyglutaric aciduria is caused by mutations in a gene present on chromosom …
Progress in understanding 2-hydroxyglutaric acidurias.
Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Kranendijk M, et al. J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. J Inherit Metab Dis. 2012. PMID: 22391998 Free PMC article. Review.
The organic acidurias D: -2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. ...
The organic acidurias D: -2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and comb …
Flux analysis of inborn errors of metabolism.
Reijngoud DJ. Reijngoud DJ. J Inherit Metab Dis. 2018 May;41(3):309-328. doi: 10.1007/s10545-017-0124-5. Epub 2018 Jan 9. J Inherit Metab Dis. 2018. PMID: 29318410 Free PMC article. Review.
The focus will be on glycogen storage disease type I, medium-chain acyl-CoA dehydrogenase deficiency, propionic and methylmalonic aciduria, urea cycle defects, phenylketonuria, and combined D,L-2-hydroxyglutaric aciduria. Finally, new developments are …
The focus will be on glycogen storage disease type I, medium-chain acyl-CoA dehydrogenase deficiency, propionic and methylmalonic aciduria, …
L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?
Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G. Moroni I, et al. Neurology. 2004 May 25;62(10):1882-4. doi: 10.1212/01.wnl.0000125335.21381.87. Neurology. 2004. PMID: 15159502 Review.
L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. ...The authors report on four patients who developed a malignant brain tumor during the course of the disease. This association points …
L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on …
Neurological manifestations of organic acid disorders.
Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Hoffmann GF, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786. Eur J Pediatr. 1994. PMID: 7957396 Review.
These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria, N-acetylaspartic aciduria (Canavan disease) and L-2-hydroxyglutaric aciduria …
These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybut …
Metabolite proofreading, a neglected aspect of intermediary metabolism.
Van Schaftingen E, Rzem R, Marbaix A, Collard F, Veiga-da-Cunha M, Linster CL. Van Schaftingen E, et al. J Inherit Metab Dis. 2013 May;36(3):427-34. doi: 10.1007/s10545-012-9571-1. Epub 2013 Jan 8. J Inherit Metab Dis. 2013. PMID: 23296366 Review.
An illustrative example of such repair enzymes is L-2-hydroxyglutarate dehydrogenase, which eliminates a metabolite abnormally made by a Krebs cycle enzyme. Mutations in L-2-hydroxyglutarate dehydrogenase lead to L-2-hydroxyglutaric aciduria, a leukoen …
An illustrative example of such repair enzymes is L-2-hydroxyglutarate dehydrogenase, which eliminates a metabolite abnormally made by a Kre …
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.
Zhang Y, Wang C, Yang K, Wang S, Tian G, Chen Y. Zhang Y, et al. Neurol Sci. 2018 Oct;39(10):1697-1703. doi: 10.1007/s10072-018-3483-2. Epub 2018 Jul 6. Neurol Sci. 2018. PMID: 29980873 Review.
OBJECTIVE: L-2-hydroxyglutaric aciduria is a genetic metabolic disorder. Its clinical features include elevated levels of hydroxyglutaric acid in body fluids and abnormal magnetic resonance imaging (MRI) in the subcortical white matter, which are affec …
OBJECTIVE: L-2-hydroxyglutaric aciduria is a genetic metabolic disorder. Its clinical features include elevated …
Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.
Aghili M, Zahedi F, Rafiee E. Aghili M, et al. J Neurooncol. 2009 Jan;91(2):233-6. doi: 10.1007/s11060-008-9706-2. Epub 2008 Oct 18. J Neurooncol. 2009. PMID: 18931888 Review.
L -2-Hydroxyglutaric aciduria (L -2-OHGA) is a rare autosomal recessive inherited encephalopathy. ...This correlation may indicate a possible increased risk of brain tumors among patients with L -2-hydroxyglutaric aciduria.. …
L -2-Hydroxyglutaric aciduria (L -2-OHGA) is a rare autosomal recessive inherited encephalopathy. ...This correl …
19 results