Maternal phenylketonuria

An international study

R. Koch, W. Hanley, H. Levy, Reuben Matalon, B. Rouse, F. Trefz, F. Guttler, C. Azen, E. Friedman, L. Platt, F. De la Cruz

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the offspring, usually consisting of microcephaly, intrauterine growth retardation, dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the recommended range result in normal offspring. However, in this 15-year study, several significant factors resulted in microcephaly in 27% of the offspring, and 7% exhibited serious congenital heart disease. These results occurred chiefly in women with mean IQ scores of 83 associated with low socioeconomic status and decreased educational achievement. Another important factor associated with suboptimal control of blood phenylalanine levels during pregnancy was the fact that most pregnancies were not carefully planned and occurred in women off dietary treatment with phenylalanine-restricted products. These results indicate that greater effort must be developed to assist women with PKU in remaining on diet during their reproductive years. It appears that continued adherence to the diet, resulting in normal maternal intelligence, is an important contribution to improved fetal development. (C) Academic Press.

Original languageEnglish (US)
Pages (from-to)233-239
Number of pages7
JournalMolecular Genetics and Metabolism
Volume71
Issue number1-2
DOIs
StatePublished - 2000

Fingerprint

Maternal Phenylketonuria
Phenylalanine
Nutrition
Microcephaly
Diet
Pregnancy
Heart Diseases
Blood
Mothers
Educational Status
Phenylketonurias
Fetal Growth Retardation
Fetal Development
Intelligence
Social Class

Keywords

  • Congenital anomalies
  • Congenital heart disease
  • Dietary treatment
  • Microcephaly
  • Nutrition
  • Phenylalanine
  • Phenylketonuria
  • Pregnancy

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

Koch, R., Hanley, W., Levy, H., Matalon, R., Rouse, B., Trefz, F., ... De la Cruz, F. (2000). Maternal phenylketonuria: An international study. Molecular Genetics and Metabolism, 71(1-2), 233-239. https://doi.org/10.1006/mgme.2000.3038

Maternal phenylketonuria : An international study. / Koch, R.; Hanley, W.; Levy, H.; Matalon, Reuben; Rouse, B.; Trefz, F.; Guttler, F.; Azen, C.; Friedman, E.; Platt, L.; De la Cruz, F.

In: Molecular Genetics and Metabolism, Vol. 71, No. 1-2, 2000, p. 233-239.

Research output: Contribution to journalArticle

Koch, R, Hanley, W, Levy, H, Matalon, R, Rouse, B, Trefz, F, Guttler, F, Azen, C, Friedman, E, Platt, L & De la Cruz, F 2000, 'Maternal phenylketonuria: An international study', Molecular Genetics and Metabolism, vol. 71, no. 1-2, pp. 233-239. https://doi.org/10.1006/mgme.2000.3038
Koch, R. ; Hanley, W. ; Levy, H. ; Matalon, Reuben ; Rouse, B. ; Trefz, F. ; Guttler, F. ; Azen, C. ; Friedman, E. ; Platt, L. ; De la Cruz, F. / Maternal phenylketonuria : An international study. In: Molecular Genetics and Metabolism. 2000 ; Vol. 71, No. 1-2. pp. 233-239.
@article{27484161dbff42edb334fe55dce3f70a,
title = "Maternal phenylketonuria: An international study",
abstract = "Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the offspring, usually consisting of microcephaly, intrauterine growth retardation, dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the recommended range result in normal offspring. However, in this 15-year study, several significant factors resulted in microcephaly in 27{\%} of the offspring, and 7{\%} exhibited serious congenital heart disease. These results occurred chiefly in women with mean IQ scores of 83 associated with low socioeconomic status and decreased educational achievement. Another important factor associated with suboptimal control of blood phenylalanine levels during pregnancy was the fact that most pregnancies were not carefully planned and occurred in women off dietary treatment with phenylalanine-restricted products. These results indicate that greater effort must be developed to assist women with PKU in remaining on diet during their reproductive years. It appears that continued adherence to the diet, resulting in normal maternal intelligence, is an important contribution to improved fetal development. (C) Academic Press.",
keywords = "Congenital anomalies, Congenital heart disease, Dietary treatment, Microcephaly, Nutrition, Phenylalanine, Phenylketonuria, Pregnancy",
author = "R. Koch and W. Hanley and H. Levy and Reuben Matalon and B. Rouse and F. Trefz and F. Guttler and C. Azen and E. Friedman and L. Platt and {De la Cruz}, F.",
year = "2000",
doi = "10.1006/mgme.2000.3038",
language = "English (US)",
volume = "71",
pages = "233--239",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1-2",

}

TY - JOUR

T1 - Maternal phenylketonuria

T2 - An international study

AU - Koch, R.

AU - Hanley, W.

AU - Levy, H.

AU - Matalon, Reuben

AU - Rouse, B.

AU - Trefz, F.

AU - Guttler, F.

AU - Azen, C.

AU - Friedman, E.

AU - Platt, L.

AU - De la Cruz, F.

PY - 2000

Y1 - 2000

N2 - Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the offspring, usually consisting of microcephaly, intrauterine growth retardation, dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the recommended range result in normal offspring. However, in this 15-year study, several significant factors resulted in microcephaly in 27% of the offspring, and 7% exhibited serious congenital heart disease. These results occurred chiefly in women with mean IQ scores of 83 associated with low socioeconomic status and decreased educational achievement. Another important factor associated with suboptimal control of blood phenylalanine levels during pregnancy was the fact that most pregnancies were not carefully planned and occurred in women off dietary treatment with phenylalanine-restricted products. These results indicate that greater effort must be developed to assist women with PKU in remaining on diet during their reproductive years. It appears that continued adherence to the diet, resulting in normal maternal intelligence, is an important contribution to improved fetal development. (C) Academic Press.

AB - Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the offspring, usually consisting of microcephaly, intrauterine growth retardation, dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the recommended range result in normal offspring. However, in this 15-year study, several significant factors resulted in microcephaly in 27% of the offspring, and 7% exhibited serious congenital heart disease. These results occurred chiefly in women with mean IQ scores of 83 associated with low socioeconomic status and decreased educational achievement. Another important factor associated with suboptimal control of blood phenylalanine levels during pregnancy was the fact that most pregnancies were not carefully planned and occurred in women off dietary treatment with phenylalanine-restricted products. These results indicate that greater effort must be developed to assist women with PKU in remaining on diet during their reproductive years. It appears that continued adherence to the diet, resulting in normal maternal intelligence, is an important contribution to improved fetal development. (C) Academic Press.

KW - Congenital anomalies

KW - Congenital heart disease

KW - Dietary treatment

KW - Microcephaly

KW - Nutrition

KW - Phenylalanine

KW - Phenylketonuria

KW - Pregnancy

UR - http://www.scopus.com/inward/record.url?scp=0033814522&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033814522&partnerID=8YFLogxK

U2 - 10.1006/mgme.2000.3038

DO - 10.1006/mgme.2000.3038

M3 - Article

VL - 71

SP - 233

EP - 239

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 1-2

ER -