Suppl. Table 5. Estimated Prevalence of GCDH Deficiency Diagnosed by MS/MS-Based Neonatal

Suppl. Table 5. Estimated prevalence of GCDH deficiency diagnosed by MS/MS-based neonatal screening

Metabolic center
(City, Country) / Author / Neonates screened (n) / Patient diagnosed (n) / Prevalence
Pittsburg, Pennsylvania + neighbouring states, USA / Naylor and Chace (1999); Chace (2002) / 1,020,000 / 13 / 1:78,500
Boston, New England, USA / Zytkovicz et al (2001); T. Zytkovicz (pers. commmun. 2004) / 164,000 / 0
Heidelberg, Baden Württemberg, Germany / Schulze et al (2003); Lindner et al (2004); M. Lindner (pers. commun. 2004) / 605,000 / 6 / 1:100,800
Munich, Bavaria, Germany / Roscher el al (2001); W. Röschinger (pers. commun. 2004) / 540,000 / 6 / 1:90,000
Sydney, NSW, Australia / Wiley et al (1999); Wilcken et al (2003); B. Wilcken (pers. commun. 2004) / 550,000 / 4 / 1:137,500
Melbourne, Victoria, Australia / J. Pitt (pers. commun. 2004) / 160,000 / 3 / 1:53,000
Copenhagen, Denmark / H. Simonsen (pers. commun. 2004) / 120,000 / 0
Overall prevalence / 3,159,000 / 32 / 1:100,000*

*95% Confidence interval: 1:70,000-1:167,000

References

Chace DH, Kalas TH, 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.

Lindner M, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF (2004) Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 851-859.

Naylor EW, Chace DW (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.

Roscher AA, Fingerhut R, Liebl B, Olgemöller B (2001) Erweiterung des Neugeborenenscreenings durch Tandemmassenspektrometrie. Monatsschr Kinderheilkd 149: 1297-1303.

Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF (2003) Expanded neonatal screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111: 1399-1406.

Wilcken B, Wiley V, Hammond J, Carpenter Kl (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348: 2304-2312.

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.

Zytkovicz TH, Fitzgerald EF, Marsden D, et al (2001) Tandem mass spectrometry of 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.