European Journal of Pediatrics

, Volume 145, Issue 4, pp 310–312 | Cite as

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

  • D. Mathias
  • H. Bickel
Short Communications

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: 10 000, 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.

Key words

Neonatal screening in West Germany Inborn errors of metabolism Results 

Abbreviations

MSUD

maple syrup urine disease

PKU

phenylketonuria

non-PKU HPA

non-PKU hyperphenylalaninaemia

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References

  1. 1.
    Alm L, Larsen A (1981) Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965–1979. Acta Paediatr Scand 70:601–607Google Scholar
  2. 2.
    Beutler E, Baluda MC (1966) A simple spot screening test for galactosemia J Lab Clin Med 68:137–141Google Scholar
  3. 3.
    Guthrie R, Susi A (1963) A simple phenylalanine method for detecting PKU in large populations of newborn infants. Pediatrics 32:338–343Google Scholar
  4. 4.
    Kirkman HN, Carroll CL, Moore EG, Matheson MS (1982) Fifteen-year experience with screening for phenylketonuria with an automated fluorometric method. Am J Hum Genet 34:743–752Google Scholar
  5. 5.
    Paigen K, Pacholec F, Levy HL (1982) A new method of screening for inherited disorders of galactose metabolism. J Lab Clin Med 99:895–907Google Scholar
  6. 6.
    Pitt D, Connelly J, Francis I, Wilcken B, Brown DA, Robertson E, Hill G, Masters P, Raby J, McFarlane J, Bowling F, Hancock J (1983) Genetic screening of newborn in Australia. Med J Aust 2:333–335Google Scholar
  7. 7.
    Schneider AJ (1983) Newborn phenylalanine/tyrosine metabolism. Am J Dis Child 137:427–432Google Scholar
  8. 8.
    Tada K, Tateda H, Arashima S, Sakai K, Kitagawa T, Aoki K, Suwa S, Kawamura M, Oura T, Takesada M, Kuroda Y, Yamashita F, Matsuda I, Naruse H (1984) Follow-up study of a nation-wide neonatal metabolic screening programme in Japan. Eur J Pediatr 142:204–207Google Scholar

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • D. Mathias
    • 1
  • H. Bickel
    • 1
  1. 1.Department of PediatricsUniversity of HeidelbergHeidelbergGermany

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