L-2-Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death

Journal of Inherited Metabolic Disease

Volumn 19, Issue 3, 1996, Pages 335-343

  Chen, E ^a   Nyhan, W L ^b   Jakobs, C ^d   Greco, C M ^c   Barkovich, A J ^b   Cox, V A ^b   Packman, S ^b,e  

^a CHILDREN S HOSPITAL OAKLAND   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CALIFORNIA PACIFIC MEDICAL CENTER   (United States)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID DERIVATIVE;

ACIDURIA; APNEA; ARTICLE; BRAIN STEM; BRAIN TOMOGRAPHY; CASE REPORT; CELL LOSS; CEREBELLUM; CEREBELLUM ATROPHY; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DEGENERATIVE DISEASE; FEMALE; GLIOSIS; HUMAN; MUSCLE HYPOTONIA; NERVE CELL; NEUROPATHOLOGY; NEWBORN; OLIVOPONTOCEREBELLAR ATROPHY; PERINATAL MORTALITY; SEIZURE; URINALYSIS;

BRAIN; BRAIN DISEASES; GLIAL FIBRILLARY ACIDIC PROTEIN; GLUTARATES; HUMANS; INFANT, NEWBORN; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0029967374     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799264     Document Type: Article

References (17)

1. Atkins BM, Utter MF, Weinberg MB (1979) Pyruvate carboxylase and phosphoenolpyruvate carboxylase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency. Pediatr Res 13: 38-43.
2. Barth PG, Hoffmann GF, Jaeken J, et al (1992) L-2-Hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 32: 66-71.
3. Barth PG, Hoffman 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.
4. Bergman I, Finegold D, Gartner JC (1989) Acute profound dystonia in infants with glutaric acidemia. Pediatrics 83: 228-254.
5. Ciafaloni E, Ricci E, Shanske S. et al (1992) MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 31: 391-398.
6. Divry P, Jakobs C, Vianey-Saban C, et al (1993) L-2-Hydroxyglutaric aciduria: two further cases. J Inher Metab Dis 16: 505-507.
7. 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.
8. Gibson KM, Ten Brink HJ, Schor DSM, et al (1993) Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res 34: 277-280.
9. Hanefeld F, Kruse B, Bruhn H, Frahm J (1994) In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia. Pediatr Res 35: 614-616.
10. Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L (1989) Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectroscopic analysis. Clin Chem 38: 587-595.
11. Jaeken J, Willekens H, Corbeel L (1988) Leukodystrophy associated with hyperlysinorhachia and 2-hydroxyglutaric aciduria. Pediatr Res 24: 266 (abstract).
12. Jakobs C, Herman GE, Craigen WJ, et al (1993) Further evidence that D-2-hydroxyglutaric aciduria is a new inherited neurometabolic disease. Monats Kinderhelik 10: 833 (abstract).
13. Jansen GA, Wanders RJA (1993) L-2-Hydroxyglutarate dehydrogenase: identification of a novel enzyme in rat and human liver. Implications for L-2-hydroxyglutaric acidemia. Biochim Biophys Acta 1225: 53-56.
14. Kerr DS, Ho L, Berlin CM, et al (1987) Systemic deficiency of the first component of the pyruvate dehydrogenase complex. Pediatr Res 22: 312-318.
15. Sheu K-FR, Hu C-WC, Utter MF (1981) Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts. J Clin Invest. 75: 1463-1471.
16. Silvestri G, Ciafaloni E, Santorelli FM, et al (1993) Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA. Neurology 43: 1200-1206.
17. Wilcken B, Pitt J, Heath D, Walsh P, Wilson G, Buchanan N (1993) L-2-Hydroxyglutaric aciduria: three Australian cases. J Inher Metab Dis 16: 501-504.