Literature DB >> 6774165

D-2-hydroxyglutaric aciduria: case report and biochemical studies.

R A Chalmers, A M Lawson, R W Watts, A S Tavill, J P Kamerling, E Hey, D Ogilvie.   

Abstract

A patient with protein-losing gastroenteropathy and egg allergy has been shown to have a previously unrecognized organic aciduria, D-2-hydroxyglutaric aciduria. The observations made are consistent with an inherited metabolic disorder in the catabolism of 5-aminolaevulinate possibly due to deficient activity of a specific D-2-hydroxyglutarate dehydrogenase.

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Year:  1980        PMID： 6774165     DOI： 10.1007/bf02312516

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  22 in total

1.  ENZYMIC STUDIES ON THE METABOLISM OF GLUTARATE IN PSEUDOMONAS.

Authors:  S NUMA; Y ISHIMURA; T NAKAZAWA; T OKAZAKI; O HAYAISHI
Journal:  J Biol Chem       Date:  1964-11       Impact factor: 5.157

2.  The oxidation of D-alpha-hydroxy acids in animal tissues.

Authors:  P K TUBBS; G D GREVILLE
Journal:  Biochem J       Date:  1961-10       Impact factor: 3.857

3.  The succinate-glycine cycle. I. The mechanism of pyrrole synthesis.

Authors:  D SHEMIN; C S RUSSELL; T ABRAMSKY
Journal:  J Biol Chem       Date:  1955-08       Impact factor: 5.157

4.  The oxidation of l(-)alpha-hydroxyglutaric acid in animal tissues.

Authors:  H Weil-Malherbe
Journal:  Biochem J       Date:  1937-11       Impact factor: 3.857

5.  Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro.

Authors:  R A Chalmers; B E Ryman; R W Watts
Journal:  Acta Paediatr Scand       Date:  1978-03

6.  The quantitative extraction and gas-liquid chromatographic determination of organic acids in urine.

Authors:  R A Chalmers; R W Watts
Journal:  Analyst       Date:  1972-12       Impact factor: 4.616

Review 7.  Paediatric gastrointestinal allergy.

Authors:  S Freier
Journal:  Clin Allergy       Date:  1973-12

8.  Metabolism of hydroxylysine by rats.

Authors:  C E Polan; W G Smith; R H Hammerstedt; L M Henderson
Journal:  J Nutr       Date:  1967-02       Impact factor: 4.798

9.  Metabolism of 2-amino-5-hydroxyadipic acid in the rat.

Authors:  G Lindahl; G Lindstedt; S Lindstedt
Journal:  Arch Biochem Biophys       Date:  1967-03       Impact factor: 4.013

10.  Determination of the configurations of lactic and glyceric acids from human serum and urine by capillary gas-liquid chromatography.

Authors:  J P Kamerling; G J Gerwig; J F Vliegenthart
Journal:  J Chromatogr       Date:  1977-03-01
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  37 in total

1.  D-2-hydroxyglutaric aciduria: further clinical delineation.

Authors:  M S van der Knaap; C Jakobs; G F Hoffmann; M Duran; A C Muntau; S Schweitzer; R I Kelley; F Parrot-Roulaud; J Amiel; P De Lonlay; D Rabier; O Eeg-Olofsson
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.

Authors:  Eleonora Napoli; Flora Tassone; Sarah Wong; Kathleen Angkustsiri; Tony J Simon; Gyu Song; Cecilia Giulivi
Journal:  J Biol Chem       Date:  2015-07-28       Impact factor: 5.157

3.  D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity.

Authors:  L Wagner; G F Hoffmann; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

4.  L-2-hydroxyglutaric aciduria: two further cases.

Authors:  P Divry; C Jakobs; C Vianey-Saban; K M Gibson; H Michelakakis; A Papadimitriou; R Divari; B Chabrol; M A Cournelle; M O Livet
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

Authors:  K M Gibson; W Craigen; G E Herman; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria.

Authors:  R J Wanders; P Mooyer
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

7.  Identification of a dehydrogenase acting on D-2-hydroxyglutarate.

Authors:  Younes Achouri; Gaëtane Noël; Didier Vertommen; Mark H Rider; Maria Veiga-Da-Cunha; Emile Van Schaftingen
Journal:  Biochem J       Date:  2004-07-01       Impact factor: 3.857

8.  Inhibition of mitochondrial creatine kinase activity by D-2-hydroxyglutaric acid in cerebellum of young rats.

Authors:  Cleide G da Silva; Ana Rubia F Bueno; Rafael B Rosa; Carlos S Dutra Filho; Clovis M D Wannmacher; Angela T S Wyse; Moacir Wajner
Journal:  Neurochem Res       Date:  2003-09       Impact factor: 3.996

9.  Hypoxia-Mediated Increases in L-2-hydroxyglutarate Coordinate the Metabolic Response to Reductive Stress.

Authors:  William M Oldham; Clary B Clish; Yi Yang; Joseph Loscalzo
Journal:  Cell Metab       Date:  2015-07-23       Impact factor: 27.287

10.  Saccharomyces cerevisiae Forms D-2-Hydroxyglutarate and Couples Its Degradation to D-Lactate Formation via a Cytosolic Transhydrogenase.

Authors:  Julia Becker-Kettern; Nicole Paczia; Jean-François Conrotte; Daniel P Kay; Cédric Guignard; Paul P Jung; Carole L Linster
Journal:  J Biol Chem       Date:  2016-01-16       Impact factor: 5.157
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