D-2-hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 247-250

  Wagner, L ^a   Hoffmann, G F ^a   Jakobs, C ^b  

^a UNIVERSITY HOSPITAL MARBURG   (Germany)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; 2 OXOGLUTARIC ACID; 4 AMINOBUTYRIC ACID; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

ACIDURIA; BIOCHEMISTRY; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL FEATURE; CONFERENCE PAPER; DEVELOPMENTAL DISORDER; EPILEPSY; FEMALE; HUMAN; INFANT; MALE; PHENOTYPE; PRESCHOOL CHILD; URINARY EXCRETION;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; FEMALE; GLUTARATES; HUMANS; INFANT, NEWBORN; MALE;

EID: 0031948045     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005364004746     Document Type: Conference Paper

References (7)

1. Chalmers RA, Lawson AM, Watts RWE, et al (1980) D-2-Hydroxyglutaric aciduria: case report and biochemical studies. J Inher Metab Dis 3: 11-15.
2. Craigen WJ, Jakobs C, Sekul EA, et al (1994) D-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. Pediatr Neurol 10: 49-53.
3. Gibson KM, Craigen WJ, Herman GE, Jakobs C (1993a) D-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inher Metab Dis 16: 497-500.
4. Gibson KM, ten Brink HJ, Schor DSM, et al (1993b) Stable-isotope dilution analysis of D-and L-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res 34: 277-280.
5. Loonen MCB, Huijmans JGM, Duran M, van de Knaap MS (1993) D-2-Hydroxyglutaric aciduria. In Proceedings of the European Federation of Child Neurology Societies, Berne, Switzerland.
6. Nyhan WL, Shelton GD, Jakobs C, et al (1995) D-2-Hydroxyglutaric aciduria. J Child Neurol. 10: 137-142.
7. Zhao G, Winkler ME (1996) A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria. J Bacteriol 178: 232-239.