Neonatal screening for glutaryl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 27, Issue 6, 2004, Pages 851-859

  Lindner, Martin ^a   Kolker S ^a   Schulze, A ^a   Christensen, E ^b   Greenberg, C R ^c   Hoffmann, G F ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b Righospitalet ^*  (Denmark)

^c UNIVERSITY OF MANITOBA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; DNA; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; PALMITOYLCARNITINE;

ARTICLE; DNA SCREENING; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; GENETIC VARIABILITY; HUMAN; MASS SCREENING; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; PHENOTYPE; PREVALENCE; RELIABILITY; SENSITIVITY AND SPECIFICITY;

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

EID: 7244243913     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045769.96657.af     Document Type: Article

References (18)

1. Baric I, Wagner L, Buckel W, Hoffmann GF (1999) Sensitivity of free and total glutaric and 3-hydroxyglutaric acid measurement by stable isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 22: 867-882.
2. Busquets C, Merinero B, Christensen E, et al (2000) Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 48: 315-322.
3. Chace DH, Kalas TA, Naylor EW (2002) The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet 3: 17-45.
4. Chace DH, Kalas TA, Naylor EW (2003) Use of tandem mass spectrometry for multi-analyte screening of dried blood specimens from newborns. Clin Chem 49: 1797-1817.
5. Greenberg CR, Prasad AN, Dilling LA, et al (2002) Outcome of the first three years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and Northwestern Ontario, Canada. Mol Gen Metab 75: 70-78.
6. Hoffmann GF, Athanassopoulos A, Burlina A, et al (1996) Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27: 115-123.
7. Kölker S, Greenberg CR, Lindner M, Müller E, Naughten ER, GF Hoffmann (2004a) Emergency treatment in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 893-902.
8. Kölker S, Burgard P, Okun JG, et al (2004b) Looking forward - an evidence-based approach to glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 921-926.
9. Mühlhausen C, Hoffmann GF, Strauss KA, et al (2004) Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 885-892.
10. Naylor EW, Chace DW (1999) Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic cid, and amino acid metabolism. J Child Neurol 14 (Supplement 1): S4-8.
11. Roscher AA, Fingerhut R, Liebl B, Olgemöller B (2001) Erweiterung des Neugeborenen screenings durch Tandemmassenspektrometrie. Monatsschr Kinderheilkd 149: 1297-1303.
12. Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111: 1399-1406.
13. Smith WE, Millington DS, Koeberl DK, Lesser PS (2001) Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics 107 1184-1187.
14. Superti-Furga A (2004) Glutaric aciduria type 1 and neonatal screening: time to proceed - with caution. Eur J Pediatr 162: S17-S20.
15. Wilcken B, Wiley V, Hammond J, Carpenter K (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348: 2304-2312.
16. Wiley V, Carpenter K, Wilcken B (1999) Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. Acta Paediatr Suppl 88: 48-51.
17. Zschocke J, Baric I, Merinero B, et al (1997) Wertigkeit der Acylcarnitinanalyse für die Diagnose der Glutarazidurie Typ I. Monatsschr Kinderheilkd 145: 432.
18. Zytkovicz TH, Fitzgerald EF, Marsden D, et al (2001) Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program. Clin Chem 47: 1945-1955.