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Quoted phrase not found in phrase index: "Decreased urine alpha-ketoglutarate concentration"
Page 1
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA. Bedoyan JK, et al. Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2. Mol Genet Metab. 2017. PMID: 28202214 Free PMC article. Review.
These urine metabolites notably decreased when lactic acidosis decreased in blood. Lymphocyte pyruvate dehydrogenase complex (PDC) activity was deficient, but PDC and alpha-ketoglutarate dehydrogenase complex activities in cultured fibroblasts w …
These urine metabolites notably decreased when lactic acidosis decreased in blood. Lymphocyte pyruvate dehydrogenase co …
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R. Mühlhausen C, et al. J Inherit Metab Dis. 2014 Sep;37(5):775-81. doi: 10.1007/s10545-014-9702-y. Epub 2014 Apr 1. J Inherit Metab Dis. 2014. PMID: 24687295
Biochemically, DL-2HGA patients excrete increased amounts of D- and L-2-hydroxyglutarate (D2HG and L2HG, respectively), with predominance of D2HG, and alpha-ketoglutarate, and show a decrease in urinary citrate. Impaired function of the mitochondrial citrate …
Biochemically, DL-2HGA patients excrete increased amounts of D- and L-2-hydroxyglutarate (D2HG and L2HG, respectively), with predominance of …
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W. Mayr JA, et al. Am J Hum Genet. 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011. Am J Hum Genet. 2011. PMID: 22152680 Free PMC article.
Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, alpha-ketoglutarate, and branched chain amino acids and in the glycine cleavage. ...We identified the homozygous mutation c.746G& …
Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, alpha …