L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients

Journal of Inherited Metabolic Disease

Volumn 20, Issue 5, 1997, Pages 725-726

  Wanders, R J A ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LIVER ENZYME; OXIDOREDUCTASE;

ACIDURIA; ARTICLE; CASE REPORT; CHILD; ENZYME ACTIVITY; FEMALE; HUMAN; MALE; SCHOOL CHILD;

ADULT; ALCOHOL OXIDOREDUCTASES; CHILD; FEMALE; GLUTARATES; HUMANS; LIVER; MALE;

EID: 0030804441     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005355316599     Document Type: Article

References (5)

1. Barth PG, Hoffmann GF, Jaeken J, et al (1992) L-2-Hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 32: 66-71.
2. Barth PG, Hoffmann GF, Jaeken J, et al (1993) L-2-Hydroxyglutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inher Metab Dis 16: 753-761.
3. Chen E, Nyhan WL, Jakobs C, et al (1996) L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inher Metab Dis 19: 335-343.
4. Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK (1980) L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inher Metab Dis 3: 109-112.
5. Jansen GA, Wanders RJA (1993) L-2-Hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric aciduria. Biochim Biophys Acta 1225: 53-56.