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

R. Koch, W. Hanley, H. Levy, Reuben Matalon, B. Rouse, F. Dela Cruz, C. Azen, E. Gross Friedman

Research output: Contribution to journalArticle

35 Citations (Scopus)

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 μmol/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 μmol/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 small head circumference for subsequent intellectual development is unclear at this time. Furthermore, the study must evaluate more offspring of women having optimal preconception and pregnancy restriction of phenylalanine.

Original languageEnglish (US)
Pages (from-to)641-650
Number of pages10
JournalJournal of Inherited Metabolic Disease
Volume13
Issue number4
DOIs
StatePublished - Jul 1990
Externally publishedYes

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Maternal Phenylketonuria
Phenylalanine
Canada
Pregnancy
Head
Phenylketonurias
Third Pregnancy Trimester
Live Birth
First Pregnancy Trimester
Birth Weight
Fetus
Therapeutics
Mothers
Parturition
Diet
Weights and Measures

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada. / Koch, R.; Hanley, W.; Levy, H.; Matalon, Reuben; Rouse, B.; Cruz, F. Dela; Azen, C.; Friedman, E. Gross.

In: Journal of Inherited Metabolic Disease, Vol. 13, No. 4, 07.1990, p. 641-650.

Research output: Contribution to journalArticle

Koch, R. ; Hanley, W. ; Levy, H. ; Matalon, Reuben ; Rouse, B. ; Cruz, F. Dela ; Azen, C. ; Friedman, E. Gross. / A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada. In: Journal of Inherited Metabolic Disease. 1990 ; Vol. 13, No. 4. pp. 641-650.
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