Glutaric aciduria type 1 and neonatal screening: Time to proceed - With caution

European Journal of Pediatrics, Supplement

Volumn 162, Issue 1, 2003, Pages

  Superti Furga, Andrea ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Glutaric aciduria type 1; Newborn screening; Tandem mass spectrometry

Indexed keywords

GLUTARIC ACID;

ACIDURIA; BRAIN INJURY; CONFERENCE PAPER; GLUTARIC ACIDURIA TYPE 1; HUMAN; INBORN ERROR OF METABOLISM; MEDICAL ASSESSMENT; MEDICAL TECHNOLOGY; MOLECULAR RECOGNITION; NEWBORN SCREENING; PATHOGENESIS; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY;

AMINO ACID METABOLISM, INBORN ERRORS; BIOMEDICAL TECHNOLOGY; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;

EID: 0346059337     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (34)

1. Altman NR, Rovira MJ, Bauer M (1991) Glutaric aciduria type 1: MR findings in two cases. AJNR 12: 966-968
2. Baric I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Muller E, Morton DH, Superti-Furga A, Hoffmann GF (1998) Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis 21: 326-340
3. Brandt NJ, Gregersen N, Christensen E, Rasmussen K (1978) Glutaric aciduria in two brothers. J Inherit Metab Dis 1: 13-14
4. Brandt NJ, Gregersen N, Christensen E, Gron IH, Rasmussen K (1979) Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue. J Pediatr 94: 669-673
5. Brismar J, Ozand PT (1994) CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients. Brain Dev 16[Suppl]: 104-124
6. Collins J, Leonard JV (2000) Natural history of glutaric aciduria type 1. Arch Dis Child 83: 87
7. Drigo P, Burlina AB, Battistella PA (1993) Subdural hematoma and glutaric aciduria type 1. Brain Dev 15: 460-461
8. Greenberg CR, Prasad AN, Dilling LA, Thompson JR, Haworth JC, Martin B, Wood-Steiman P, Seargeant LE, Seifert B, Booth FA, Prasad C (2002) Outcome of the first 3 years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada. Mol Genet Metab 75: 70-78
9. Haworth JC, Booth FA, Chudley AE, de Groot GW, Dilling LA, Goodman SI, Greenberg CR, Mallory CJ, McClarty BM, Seshia SS et al (1991) Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds. J Pediatr 118: 52-58
10. Hoffmann GF, Zschocke J (1999) Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis 22: 381-391
11. Hoffmann GF, Trefz FK, Barth PG, Böhles HJ, Biggemann B, Bremer HJ, Christensen E, Frosch M, Hanefeld F, Hunneman DH et al (1991) Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics 88: 1194-1203
12. Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Muller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27: 115-123
13. Kohler M, Hoffmann GF (1998) Subdural haematoma in a child with glutaric aciduria type I. Pediatr Radiol 28: 582
14. Kolker S, Ahlemeyer B, Krieglstein J, Hoffmann GF (1999) 3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro. J Inherit Metab Dis 22: 259-262
15. Kolker S, Ahlemeyer B, Krieglstein J, Hoffmann GF (2000) Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency. Pediatr Res 47: 495-503
16. Kolker S, Ramaekers VT, Zschocke J, Hoffmann GF (2001) Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene. J Pediatr 138: 277-279
17. Kolker S, Kohr G, Ahlemeyer B, Okun JG, Pawlak V, Horster F, Mayatepek E, Krieglstein J, Hoffmann GF (2002) Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 52: 199-206
18. Kolker S, Okun JG, Ahlemeyer B, Wyse AT, Horster F, Wajner M, Kohlmuller D, Mayatepek E, Krieglstein J, Hoffmann GF (2002) Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons. J Neurosci Res 68: 424-431
19. Lopez AD, Murray CC (1998) The global burden of disease, 1990-2020. Nat Med 4: 1241-1243
20. Lutcherath V, Waaler PE, Jellum E, Wester K (2000) Children with bilateral temporal arachnoid cysts may have glutaric aciduria type 1 (GAT1); operation without knowing that may be harmful. Acta Neurochir (Wien) 142: 1025-1030
21. Mandel H, Braun J, Elpeleg O, Christensen E, Berant M (1991) Glutaric aciduria type I. Brain CT features and a diagnostic pitfall. Neuroradiology 33: 75-78
22. Martinez-Lage JF, Casas C, Fernandez MA, Puche A, Rodriguez-Costa T, Poza M (1994) Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1. Childs Nerv Syst 10: 198-203
23. Monavari AA, Naughten ER (2000) Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management. Arch Dis Child 82: 67-70
24. Naylor EW, Chace DH (1999) Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 14[Suppl 1]: S4-S8
25. Niiyama S, Koelker S, Degen I, Hoffmann GF, Happle R, Hoffmann R (2001) Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I. Eur J Dermatol 11: 244-246
26. Osaka H, Kimura S, Nezu A, Yamazaki S, Saitoh K, Yamaguchi S (1993) Chronic subdural hematoma as an initial manifestation of slutaric aciduria type 1. Brain Dev 15: 125-127
27. Schwappach DL (2002) Resource allocation, social values and the QALY: a review of the debate and empirical evidence. Health Expect 5: 210-222
28. Superti-Furga A, Hoffmann GF (1997) Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. Eur J Pediatr 156: 821-828
29. Thomason MJ, Lord J, Bain MD, Chalmers RA, Littlejohns P, Addison GM, Wilcox AH, Seymour CA (1998) A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism. J Public Health Med 20: 331-343
30. Tilford JM (2002) Cost-effectiveness analysis and emergency medical services for children: issues and applications. Ambul Pediatr 2: 330-336
31. Trefz FK, Hoffmann GF, Mayatepek E, Lichter-Konecki U, Weisser J, Otten A, Wendel U, Rating D, Bremer HJ (1991) Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I). Monatsschr Kinderheilkd 139: 754-758
32. Ullrich K, Flott-Rahmel B, Schluff P, Musshoff U, Das A, Lucke T, Steinfeld R, Christensen E, Jakobs C, Ludolph A, Neu A, Roper R (1999) Glutaric aciduria type I: pathomechanisms of neurodegeneration. J Inherit Metab Dis 22: 392-403
33. Wilson JM and Jungner YG (1968) Principles and practice of mass screening for disease. Bol Oficina Sanit Panam 65: 281-393
34. Woelfle J, Kreft B, Emons D, Haverkamp F (1996) Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall. Pediatr Radiol 26: 779-781