L-2-hydroxyglutaric aciduria and lactic acidosis

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 251-254

  Barth, P G ^a   Wanders, R J A ^a   Scholte, H R ^b   Abeling, N ^a   Jakobs, C ^c   Schutgens, R B H ^a   Vreken, P ^a  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; GLUTARIC ACID DERIVATIVE; LACTIC ACID; UNCLASSIFIED DRUG;

ACIDURIA; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CONFERENCE PAPER; DISEASE SEVERITY; HUMAN; INFANT; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MALE; NEWBORN; ONSET AGE; PRESCHOOL CHILD; SEIZURE; SYMPTOM;

ACIDOSIS, LACTIC; ALCOHOL OXIDOREDUCTASES; CHILD, PRESCHOOL; GLUTARATES; HUMANS; LACTIC ACID; LIVER; MALE;

EID: 0031948046     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005316121584     Document Type: Conference Paper

References (9)

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2. Barth PG, Hoffmann GF, Jaeken J, et al (1993) L-2-Hydroxyglutaric acidaemia: 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.
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6. Larnaout A, Hentati F, Belal S, et al (1994) Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathol 88: 367-370.
7. Maaswinkel-Mooij PD, Van den Bogert C, Scholte HR, et al (1996) Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr 128: 679-683.
8. Topçu M, Erdem G, Saatçi I, et al (1996) Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease. J Child Neurol 11: 373-377.
9. Wanders RJA, Mooyer P (1995) D-2-Hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria. J Inher Metab Dis 18: 194-196.