A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada

Journal of Inherited Metabolic Disease
R KochE Gross Friedman

Abstract

The Maternal Phenylketonuria Collaborative Study (MPKUCS), encompassing all the United States and provinces of Canada, is a prospective, longitudinal investigation designed to ascertain the efficacy of phenylalanine-restricted therapy in protecting the fetus from high maternal phenylalanine concentrations in women with hyperphenylalaninaemia. Preliminary findings are reported for 147 pregnancies for whom the recommended therapeutic range of blood phenylalanine was 120-360 mumols/L. Sixty-three pregnancies had complete data for analysis. Dietary control was attempted prior to conception in 10 out of 63 women. Significant negative correlations were noted in length, weight and head circumference and blood phenylalanine concentrations during pregnancy. Average reported phenylalanine levels by trimester for 63 hyperphenylalaninaemic pregnancies resulting in live births revealed that no group requiring treatment achieved levels below 360 mumols/L until the third trimester. Median birth measurement percentiles revealed that all groups studied generally had smaller head size compared with birth length and weight. Those started on diet after the first trimester achieved a head circumference below the 10th percentile. The implication of ...Continue Reading

References

Jan 1, 1986·Journal of Inherited Metabolic Disease·R KochG Donnell
Aug 1, 1988·Acta Paediatrica Japonica; Overseas Edition·R KochW Heiter
Feb 1, 1984·The Journal of Pediatrics·A LipsonW Webster
Mar 1, 1982·American Journal of Obstetrics and Gynecology·R R Lenke, H L Levy

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Citations

Jan 1, 1993·Journal of Inherited Metabolic Disease·H H KecskemethyH L Levy
Sep 30, 1992·Clinica Chimica Acta; International Journal of Clinical Chemistry·R S CampbellC P Price
May 1, 1991·The Journal of Pediatrics·H L LevyF de la Cruz
Oct 1, 1990·Acta paediatrica Scandinavica·K H SchulpisS Missiou-Tsagarakis
Dec 1, 1994·Acta Paediatrica. Supplement·R KochF Güttler
Mar 15, 1993·Annals of the New York Academy of Sciences·R KochK Michals-Matalon
Mar 1, 1991·American Journal of Public Health·S E WaisbrenH L Levy
Jul 1, 1992·Journal of Obstetric, Gynecologic, and Neonatal Nursing : JOGNN·P B Acosta, L Wright
Sep 13, 2005·Molecular Genetics and Metabolism·A E MartynyukC N Seubert
Sep 26, 2000·Molecular Genetics and Metabolism·R KochF de la Cruz
Jul 28, 2009·American Journal of Obstetrics and Gynecology·Donna A SantillanStephen K Hunter
Apr 1, 1992·Current Problems in Pediatrics·M E O'Flynn
Mar 20, 2003·Journal of Neuroscience Research·A V GlushakovA E Martynyuk
Mar 21, 1998·Journal of Inherited Metabolic Disease·S E WaisbrenB Rouse
Feb 7, 2001·Pediatrics·UNKNOWN American Academy of Pediatrics. Committee on Genetics

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