Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

@article{Lindner2010NewbornSF,
  title={Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting},
  author={Martin Lindner and Georg F. Hoffmann and Dietrich Matern},
  journal={Journal of Inherited Metabolic Disease},
  year={2010},
  volume={33},
  pages={521-526}
}
Experience with new-born screening (NBS) for disorders of fatty-acid oxidation (FAOD) is now becoming available from an increasing number of programs worldwide. The spectrum of FAOD differs widely between ethnic groups. Incidence calculations from reports from Australia, Germany, and the USA of a total of 5,256,999 newborns give a combined incidence of all FAOD of approximately 1:9,300. However, it appears to be much lower in Asians. Consequently, a significant prevalence and evidence for a… 
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References

SHOWING 1-10 OF 19 REFERENCES
Validation of MCADD newborn screening
TLDR
The validation strategy is able to differentiate healthy carriers from patients doubling the positive predictive value (42→88%) and to target NBS to MCADD‐subsets with potentially higher risk of adverse outcome.
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
Novel mutations causing medium chain acyl‐CoA dehydrogenase deficiency: Under‐representation of the common c.985 A > G mutation in the New York state population
TLDR
Results suggest that p.K304E has a far lower representation in New York newborns with MCADD than current literature estimates and its full mutational spectrum is still unknown.
Neonatal screening for congenital adrenal hyperplasia.
TLDR
It is concluded that neonatal screening for congenital adrenal hyperplasia caused by 21-hydroxylase deficiency was possible by this method and that the infants' maturity and the particular day of collection of the samples affect the values but not the validity of the screening.
Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years
TLDR
Screening by tandem mass spectrometry provides a better outcome for patients at 6 years of age, with fewer deaths and fewer clinically significant disabilities.
Tandem mass neonatal screening in Taiwan--report from one center.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
TLDR
The screening by MS/MS for up to 23 additional disorders has approximately doubled the detection rate compared with that achieved by the conventional methods used in Germany.
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.
TLDR
In screening for 23 metabolic disorders by MS/MS, an mean positive predictive value of 8% can be achieved when using cutoffs for individual markers determined empirically on newborns.
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