D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

Annals of Neurology

Volumn 45, Issue 1, 1999, Pages 111-119

  Van Der Knaap, M S ^a   Jakobs, C ^a   Hoffmann, G F ^d   Nyhan, W L ^e   Renier, W O ^b   Smeitink, J A M ^b   Catsman Berrevoets, C E ^c   Hjalmarson, O ^g   Vallance, H ^h   Sugita, K ⁱ   Bowe, C M ^f   Herrin, J T ^j   Craigen, W J ^k   Buist, N R M ^l   Brookfield, D S K ^m   Chalmers, R A ⁿ  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^d PHILIPPS UNIVERSITY MARBURG   (Germany)

^e UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^h BC CHILDREN S HOSPITAL   (Canada)

ⁱ CHIBA UNIVERSITY   (Japan)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k BAYLOR COLLEGE OF MEDICINE   (United States)

^l OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^m UNIVERSITY HOSPITAL OF NORTH STAFFORDSHIRE   (United Kingdom)

ⁿ ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; 4 AMINOBUTYRIC ACID; BIOCHEMICAL MARKER; CARBOXYLIC ACID DERIVATIVE; CITRIC ACID; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

ACIDURIA; ADULT; ARTICLE; BRAIN CYST; BRAIN DISEASE; BRAIN MATURATION; BRAIN VENTRICLE DILATATION; CARDIOMYOPATHY; CAUDATE NUCLEUS; CHILD; CITRIC ACID CYCLE; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; EPILEPSY; FEMALE; HUMAN; INFANT; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; ONSET AGE; PRIORITY JOURNAL; SUBDURAL EFFUSION; VISUAL IMPAIRMENT;

BIOLOGICAL MARKERS; CEREBRAL VENTRICLES; CHILD, PRESCHOOL; CHOREA; CYSTS; EPENDYMA; EPILEPSY; FAMILY HEALTH; FEMALE; GAMMA-AMINOBUTYRIC ACID; GLUTARATES; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE HYPOTONIA; PHENOTYPE; TOMOGRAPHY, X-RAY COMPUTED; VISION, LOW;

EID: 0032957499     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199901)45:1<111::AID-ART17>3.0.CO;2-N     Document Type: Article

References (55)

1. Duran M, Kamerling JP, Bakker HD, et al. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 1980;3:109-112
2. Barth PG, Hoffmann GF, Jacken J, et al. L-2-Hydroxyglutaric acidemia: a novel inherited metabolic disease. Ann Neurol 1992;32:66-71
3. Barth PG, Hoffmann GF, Jaeken J, et al. L-2-Hydroxyglutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 1993;16:753-761
4. Divry P, Jakobs C, Vianey-Saban C, et al. L-2-Hydroxyglutaric aciduria: two further cases. J Inherit Metab Dis 1993;16:505-507
5. Wilcken B, Pitt J, Heath D, et al. L-2-Hydroxyglutaric aciduria: three Australian cases. J Inherit Metab Dis 1993;16:501-504
6. Larnaout A, Hentati F, Ben Hamida C, et al. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathol 1994;88:367-370
7. Hoffmann GF, Jakobs C, Holmes B, et al. Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria. J Inherit Metab Dis 1995;18:189-193
8. Diogo L, Fineza I, Canha J, et al. Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy. J Inherit Metab Dis 1996;19:369-370
9. Topçu M, Erdem G, Saatçi I, et al. Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease. J Child Neurol 1996;11:373-377
10. Chen E, Nyhan L, Jakobs C, et al. L-2-Hydroxyglutaric acidemia: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis 1996;19:335-343
11. Barbot C, Fineza I, Diogo L, et al. L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging findings in six Portuguese pediatric patients. Brain Dev 1997; 19:268-273
12. De Klerk JBC, Huijmans JGM, Stroink H, et al. L-2-Hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship. Neuropediatrics 1997;28:314-317
13. Chalmers RA, Lawson AM, Watts RWE, et al. D-2-Hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis 1980;3:11-15
14. Gibson KM, Craigen WJ, Herman GE, Jakobs C. D-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis 1993;16:497-500
15. Craigen WJ, Jakobs C, Sekul EA, et al. D-2-Hydroxyglutaric aciduria in a neonate with seizures and CNS dysfunction. Pediatr Neurol 1994;10:49-53
16. Nyhan WL, Shelton GD, Jakobs C, et al. D-2-Hydroxyglutaric aciduria. J Child Neurol 1995;10:137-142
17. Sugita K, Kakinuma H, Okajima Y, et al. Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria. Brain Dev 1995;17:139-141
18. Geerts Y, Renier WO, Bakkeren J, de Jong J. 2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature. J Neurol Sci 1996;143: 166-169
19. Baker NS, Sarnat HB, Jack RM, et al. D-2-Hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy and cylindrical spirals in skeletal muscle. J Child Neurol 1997; 12:31-36
20. Jakobs C, Verhoeven NM, van der Knaap MS. Various organic acidurias. In: Blau N, Duran M, Blaskovics ME, eds. Physician's guide to the laboratory diagnosis of metabolic diseases. London: Chapman and Hall, 1996:163-176
21. Gibson KM, ten Brink HJ, Schor DSM, et al. Stable isotope dilution of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res 1993;34:277-280
22. Kok RM, Howells DW, van den Heuvel CMM, et al. Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron capture negative ion mass fragmentography. J Inherit Metab Dis 1993;16:508-512
23. Costa CG, Struys EA, Bootsma A, et al. Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmemography. J Lipid Res 1997;38:173-182
24. Rahman S, Blok RB, Dahl HHM, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343-351
25. Tulinius MH, Holme E, Kristiansson B, et al. Mitochondrial encephalomyopathies in childhood: clinical manifestations and syndromes. J Pediatr 1991;119:251-259
26. Gibson KM, Elpeleg ON, Jakobs C, et al. Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol 1993;9:120-123
27. Hagberg BA, Blennow G, Krisriansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 1993;9:255-262
28. Clayton PT, Winchester BG, Keir G. Hypertrophic obstructive cardiomyoparhy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 1992;15:857-861
29. Barkovich AJ, Kios BO, Jackson DE, Norman D. Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T. Radiology 1988;166:173-180
30. Van der Knaap MS, van Wezel-Meijler G, Barth PG, et al. Normal gyration and sulcation in preterm and term neonates: appearance on MR images. Radiology 1996;200:389-396
31. Tatum WO, Coker SB, Ghobrial M, Abd-Allah S. The open opercular sign: diagnosis and significance. Ann Neurol 1989;25: 196-199
32. Faerber EN, Grover WD, De Filipp GJ, et al. Cerebral MR of Menkes kinky-hair disease. Am J Neuroradiol 1989;10:190-192
33. Takahashi S, Ishii K, Matsumoto K, et al. Cranial MRI and MR angiography in Menkes' syndrome. Neuroradiology 1993; 35:556-558
34. Barkovich AJ, Good WV, Koch TK, Berg BO. Mitochondrial disorders: analysis of their clinical and imaging characteristics. Am J Neuroradiol 1993;14:1119-1137
35. Van der Knaap MS, Jakobs C, VaIk J. Magnetic resonance imaging in lactic acidosis. J Inherit Metab Dis 1996;19:535-547
36. Hoffmann GF, Athanassopoulos S, Burlina AB, et al. Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996; 27:115-123
37. Rademaker KJ, de Vries LS, Barth PG. Subependymal pseudocysts: ultrasound diagnosis and findings at follow-up. Acta Paediatr 1993;82:394-399
38. Larroche JC. Subependymal pseudocysts in the newborn. Biol Neonate 1972;21:170-183
39. Shaw CM, Alvord EC. Subependymal germinolysis. Arch Neurol 1974;31:374-381
40. Squires L, Betz B, Umfleet J, Kelley R. Resolution of subependymal cysts in neona tal holocarboxylase synthetase deficiency. Dev Med Child Neurol 1997;39:267-269
41. Farkas E, Goutieres F, Richardet JM, et al. Leucoencéphalopathy familiale associée à une acidose lactique congénitale. Acta Neuropathol 1971;17:156-168
42. Agamanolis DP, Robinson HB, Timmons GD. Cerebro-hepato-renal syndrome. J Neuropathol Exp Neurol 1976;35: 226-246
43. Russel IMB, van Sonderen L, van Straaten HLM, Barth PG. Subependymal germi nolytic cysts in Zellweger syndrome. Pediatr Radiol 1995;25:254-255
44. Van der Knaap MS, Valk J. The MR spectrum of peroxisomal disorders. Neuroradiology 1991;33:30-37
45. Kaufman EE, Nelson T, Fales HM, Levin DM. Isolation and characterization of a hydroxyacid-oxoacid transhydrogenase from rat kidney mitochondria. J Biol Chem 1988;263:16872-16879
46. Buckel W. The reversible dehydration of (R)-2-hydroxyglutarate to (E)-glutaconate. Eur J Biochem 1980;106:439-447
47. Wegener WAS, Reeves HC, AjI SJ. Propionate metabolism. III. Studies on the significance of the α-hydroxyglutarate pathway. Arch Biochem Biophys 1968;123:62-65
48. Kopchick JJ, Hartline RA. α-Hydroxybutyrate as an intermediate in the catabolism of α-aminoadipate by Pseudomonus putida. J Biol Chem 1979;254:3259-3263
49. Zhao G, Winkler ME. A novel α-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 1996;178:232-239
50. Achouri Y, Rider MH, Van Schaftingen E, Robbi M. Cloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenase. Biochemistry 1997;323:365-370
51. Goodman SI, Reale M, Berlow S. Glutaric aciduria type II: a form with deleterious intrauterine effects. J Pediatr 1983;102: 411-413
52. Watanabe H. Yamaguchi S, Saiki K, et al. Identification of the D-enantiomer of 2-hydroxyglutaric acid in glutaric aciduria type II. Clin Chim Acta 1995;238:115-124
53. Goodman SI, Binard RJ, Frerman FE. Enzymatic oxidation of D-4-hydroxyglutaryl-CoA is linked to reduction of electron transfer flavoprotein. In: Book of abstracts. Society for Inherited Metabolic Disorders, 1995:P3 (Abstract)
54. Wanders RJA, Mooijer P. D-2-Hydroxyglutaric acidemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria. J Inherit Metab Dis 1995;18: 194-196
55. Hoffmann GF. Organic acid analysis. In: Blau N, Duran M, Blaskovics ME, eds. Physician's guide to the laboratory diagnosis of metabolic diseases. London: Chapman and Hall, 1996: 31-49