PMID: 3770001Sep 1, 1986Paper

Follow-up study of 16 years neonatal screening for inborn errors of metabolism in West Germany

European Journal of Pediatrics
D Mathias, H Bickel

Abstract

Capillary blood samples from almost one million neonates from Baden-Württemberg were investigated for inborn errors of metabolism between 1969 and 1984 in our screening centre. Besides 7 patients with maple syrup urine disease (MSUD), 3 with homocystinuria and 18 with galactosaemia, a follow-up of the positive screening results confirmed 94 patients with phenylketonuria (PKU) and 76 with non-PKU hyperphenylalaninaemia (non-PKU HPA). The incidence of PKU is 1:10000, and that of HPA in the wider sense (PKU and non-PKU HPA) as obtained by newborn screening before further classification at 6 months 1:5532. For West Germany as a whole, the number of newly discovered cases with persistent hyperphenylalaninaemia was 1480 in the same period. The subdivision into PKU and non-PKU HPA is not yet possible from this figure. It is strongly suggested that the abnormal results of newborn screening for phenylalanine be designated as hyperphenylalaninaemia (in the wider sense) and that the terms "PKU" or "non-PKU HPA" be used only after further differentiation as carried out by us at the age of 6 months.

References

Apr 2, 1983·The Medical Journal of Australia·D PittJ Hancock
May 1, 1983·American Journal of Diseases of Children·A J Schneider
Sep 1, 1981·Acta paediatrica Scandinavica·J Alm, A Larsson

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Citations

Sep 15, 2011·European Journal of Human Genetics : EJHG·Johannes ZschockeLisbeth Birk Møller
Mar 22, 2013·Journal of Human Genetics·María A BuenoMaría L Couce
Apr 20, 2012·Molecular Genetics and Metabolism·Urh GroseljTadej Battelino
Aug 1, 1991·Clinical Biochemistry·E Beutler
Aug 1, 1988·Acta Paediatrica Japonica; Overseas Edition·F K TrefzH Bickel
Jul 14, 2010·Annals of Saudi Medicine·Hissa MoammarNouriya Al-Sannaa
Feb 7, 2020·Clinical and Experimental Pediatrics·Hamid Reza ShorakaFarzaneh Zolala
Apr 2, 2020·Molecular Genetics & Genomic Medicine·Giovana R Weber HossHenk J Blom
Jun 5, 2021·Orphanet Journal of Rare Diseases·Pamela K ForemanSarah Landis

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