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Quoted phrase not found in phrase index: "Pyruvate dehydrogenase E3 deficiency"
Page 1
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. Patel KP, et al. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. Mol Genet Metab. 2012. Corrected and republished in: Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017. PMID: 22079328 Free PMC article. Corrected and republished. Review.
CONTEXT: Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent compr …
CONTEXT: Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with l …
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. Patel KP, et al. Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017. Mol Genet Metab. 2012. PMID: 22896851 Free PMC article.
CONTEXT: Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent compr …
CONTEXT: Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with l …
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.
Staretz-Chacham O, Pode-Shakked B, Kristal E, Abraham SY, Porper K, Wormser O, Shelef I, Anikster Y. Staretz-Chacham O, et al. Nutrients. 2021 Oct 7;13(10):3523. doi: 10.3390/nu13103523. Nutrients. 2021. PMID: 34684524 Free PMC article.
BACKGROUND: Dihydrolipoamide dehydrogenase (DLD lipoamide dehydrogenase, the E3 subunit of the pyruvate dehydrogenase complex (PDHC)) is the third catalytic enzyme of the PDHC, which converts pyruvate to acetyl-CoA catalyzed with the intr …
BACKGROUND: Dihydrolipoamide dehydrogenase (DLD lipoamide dehydrogenase, the E3 subunit of the pyruvate dehyd …
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP. Odièvre MH, et al. Hum Mutat. 2005 Mar;25(3):323-4. doi: 10.1002/humu.9319. Hum Mutat. 2005. PMID: 15712224 Review.
This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD). The E3 subunit is common to two other enzymatic complexes, namely pyruvate dehydrogenase complex (PDC) and branched-chain ketoacid …
This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD). The E3 …
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M. Imbard A, et al. Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18. Mol Genet Metab. 2011. PMID: 21914562
BACKGROUND: Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1alpha subunit (PDHA1) while a few cases resu …
BACKGROUND: Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most …
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
Haviv R, Zeharia A, Belaiche C, Haimi Cohen Y, Saada A. Haviv R, et al. Eur J Pediatr. 2014 Feb;173(2):243-5. doi: 10.1007/s00431-013-2153-x. Epub 2013 Aug 31. Eur J Pediatr. 2014. PMID: 23995961
The E3 subunit of the pyruvate dehydrogenase complex (dihydrolipoamide dehydrogenase/dihydrolipoyl dehydrogenase/DLD/lipoamide dehydrogenase/LAD), is a mitochondrial matrix enzyme and also a part of the branched-chain ketoacid dehydrog …
The E3 subunit of the pyruvate dehydrogenase complex (dihydrolipoamide dehydrogenase/dihydrolipoyl dehydrogen …
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS. Okajima K, et al. Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18164639
Pyruvate dehydrogenase complex (PDC) deficiencies are a major cause of primary lactic acidosis. Most cases result from mutations of the gene for the pyruvate dehydrogenase E1alpha subunit (PDHA1), with fewer cases resulting from mutations in gen …
Pyruvate dehydrogenase complex (PDC) deficiencies are a major cause of primary lactic acidosis. Most cases result from …
Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.
Vaubel RA, Rustin P, Isaya G. Vaubel RA, et al. J Biol Chem. 2011 Nov 18;286(46):40232-45. doi: 10.1074/jbc.M111.274415. Epub 2011 Sep 19. J Biol Chem. 2011. PMID: 21930696 Free PMC article.
Dihydrolipoamide dehydrogenase (DLD) is a multifunctional protein well characterized as the E3 component of the pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes. ...However, under elevated oxidative stress, expression of DL …
Dihydrolipoamide dehydrogenase (DLD) is a multifunctional protein well characterized as the E3 component of the pyruvate …
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate.
Craigen WJ. Craigen WJ. Pediatr Neurol. 1996 Jan;14(1):69-71. doi: 10.1016/0887-8994(96)00005-7. Pediatr Neurol. 1996. PMID: 8652022
A 6-month-old female infant with hypotonia and keto and lactic acidosis was diagnosed with lipoamide dehydrogenase (E3) deficiency. This enzyme is a component of the pyruvate, alpha-ketoglutarate, and branched chain alpha-ketoacid dehydrogenase …
A 6-month-old female infant with hypotonia and keto and lactic acidosis was diagnosed with lipoamide dehydrogenase (E3) def …
Leigh's disease due to a new mutation in the PDHX gene.
Schiff M, Miné M, Brivet M, Marsac C, Elmaleh-Bergés M, Evrard P, Ogier de Baulny H. Schiff M, et al. Ann Neurol. 2006 Apr;59(4):709-14. doi: 10.1002/ana.20818. Ann Neurol. 2006. PMID: 16566017
OBJECTIVE: To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase complex (PDHc) deficiency. ...RESULTS: Our patient accused an unspecific encephalopathy for years …
OBJECTIVE: To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with …
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