Abstract
The German maternal phenylketonuria (MPKU) Study began in 1989 and since 1992 works together with the American-Canadian MPKU Study. Main goals of the study are: (1) to find women with phenylketonuria (PKU) and mild untreated hyperphenylalaninaemia (HPA); (2) to inform them about the risks of an untreated pregnancy with PKU and HPA; (3) to evaluate the efficacy of the phenylalanine (Phe) restricted dietary treatment prior to and during pregnancy by following the physical and cognitive development of offspring from treated pregnancies. An interim report of the study is presented. Until now, 43 pregnancies have been followed. They resulted in 34 live births, 24 from women with PKU and 10 from women with HPA. There are significant negative correlations between the gestational age in which the dietary control (blood Phe level <360 µmol/1) was reached and pregnancy outcome as measured by growth parameters and early cognitive and motor developmental quotients at the age of 2 years. For minimizing risks of MPKU, preconceptional dietary control is strongly recommended. Tracking and timely information of young women about risks of MPKU is of outmost importance.
Similar content being viewed by others
Abbreviations
- HPA :
-
hyperphenylalaninaemia
- MDI :
-
mental developmental index
- MPKU :
-
maternal phenylketonuria
- PDI :
-
performance developmental index
- Phe :
-
phenylalanine
- PKU :
-
phenylketonuria
References
Flinders B, Ullrich K, Cipcic-Schmidt S, Müller C, Przyrembel H, Weglage J, Koch HG, van Teeffelen-Heithoff A, Trefz FK (1994) Cholesterol, vitamin and trace element concentrations in treated maternal PKU pregnancies. Paper presented at VI International Congress: Inborn Errors of Metabolism, Milano
Hanley WB, Clarke JTR, Schoonheyt W (1987) Maternal phenylketonuria (PKU): a review. Clin Biochem 20: 149–156
Lenke RR, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies. N Engl J Med 303: 1202–1208
Levy HL, Waisbren SE, Lobbregt D, Allred E, Schuler A, Trefz FK, Schweitzer SM, Sardharwalla IB, Walter JH, Barwell BE, Berlin CM, Leviton A (1994) Maternal mild hyperphenylalaninemia: an international survey of offspring outcome. Lancet 344: 1589–1594
Koch R, Levy HL, Matalon R, Rouse B, Hanley WB, Azen C (1993) The north american collaborative study of maternal phenylketonuria. Am J Dis Child 147: 1224–1230
Piatt LD, Koch R, Azen C, Hanley WB, Levy HL, Matalon R, Rouse B, Cruz F de la (1992) Maternal Phenylketonuria Collaborative Study, obstetric aspects and outcome: the first 6 years. Am J Obstet Gynecol 166: 1150–1162
Prader A, Largo RH, Molinari L, Issler C (1988) Physical growth of Swiss children from birth to 20 years of age. Helv Paediatr Acta [Suppl] 52: 5/6
Report of the Medical Research Council Working Party on Phenylketonuria (1993) Recommendations on the dietary management of phenylketonuria. Arch Dis Child 68: 426–427
Salize HJ, Fünders-Bücker B, Knorrek U, Mallmann R, Michel A, Pietsch V, Seidlitz G, Ullrich K, Widhalm K, Trefz FK (1991) Maternale PKU-Risiken für das Ungeborene. Sozialpädiatrie in Praxis und Klinik 13: 496–501
Salize HJ, Fünders-Bücker B, Knorrek U, Kolbe S, Pietsch V, Seidlitz G, Ullrich K, Trefz FK (1992) Maternale PKU — Problem der Auffindung und Risikoaufklärung betroffener Frauen. Monatsschr Kinderheilkd 140: 42–46
Trefz FK, Ullrich K, Cipcic-Schmidt S, Füders-Bücker B, van Teeffelen-Heithoff A, Przyrembel H (1995) Prophy-laxe und Behandlung der maternalen Phenylketonurie: Stellungnahme der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen. Monatsschr Kinderheilkd 143: 898–899
Was ist Maternale Phenylketonurie? Anasal Fenilketonur nedir? (German and Turkish) Information booklet on Maternal PKU of German MPKU Study. Department of Pediatrics, University of Heidelberg
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Cipcic-Schmidt, S., Trefz, F.K., Fünders, B. et al. German Maternal Phenylketonuria Study. Eur J Pediatr 155 (Suppl 1), S173–S176 (1996). https://doi.org/10.1007/PL00014241
Issue Date:
DOI: https://doi.org/10.1007/PL00014241