Maternal phenylketonuria

Christopher Cunniff; Jaime L. Frias; Celia Kaye; John B. Moeschler; Susan R. Panny; Tracy L. Trotter; Felix De La Cruz; John Williams; James W. Hanson; Cynthia A. Moore; Michele Lloyd-Puryear; H. Eugene Hoyme; Rebecca S. Wappner; Lauri Hall

doi:10.1542/peds.107.2.427

Maternal phenylketonuria

Christopher Cunniff, Jaime L. Frias, Celia Kaye, John B. Moeschler, Susan R. Panny, Tracy L. Trotter, Felix De La Cruz, John Williams, James W. Hanson, Cynthia A. Moore, Michele Lloyd-Puryear, H. Eugene Hoyme, Rebecca S. Wappner, Lauri Hall

Research output: Contribution to journal › Short survey › peer-review

1 Scopus citations

Abstract

Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine levels is achieved before conception and continued throughout the pregnancy.

Original language	English (US)
Pages (from-to)	427-428
Number of pages	2
Journal	Pediatrics
Volume	107
Issue number	2
DOIs	https://doi.org/10.1542/peds.107.2.427
State	Published - 2001
Externally published	Yes

Keywords

PAH
PKU
Phe
Phenylalanine
Phenylalanine hydroxylase
Phenylketonuria

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1542/peds.107.2.427

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title = "Maternal phenylketonuria",

abstract = "Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine levels is achieved before conception and continued throughout the pregnancy.",

keywords = "PAH, PKU, Phe, Phenylalanine, Phenylalanine hydroxylase, Phenylketonuria",

author = "Christopher Cunniff and Frias, {Jaime L.} and Celia Kaye and Moeschler, {John B.} and Panny, {Susan R.} and Trotter, {Tracy L.} and {De La Cruz}, Felix and John Williams and Hanson, {James W.} and Moore, {Cynthia A.} and Michele Lloyd-Puryear and Hoyme, {H. Eugene} and Wappner, {Rebecca S.} and Lauri Hall",

year = "2001",

doi = "10.1542/peds.107.2.427",

language = "English (US)",

volume = "107",

pages = "427--428",

journal = "Pediatrics",

issn = "0031-4005",

publisher = "American Academy of Pediatrics",

number = "2",

}

TY - JOUR

T1 - Maternal phenylketonuria

AU - Cunniff, Christopher

AU - Frias, Jaime L.

AU - Kaye, Celia

AU - Moeschler, John B.

AU - Panny, Susan R.

AU - Trotter, Tracy L.

AU - De La Cruz, Felix

AU - Williams, John

AU - Hanson, James W.

AU - Moore, Cynthia A.

AU - Lloyd-Puryear, Michele

AU - Hoyme, H. Eugene

AU - Wappner, Rebecca S.

AU - Hall, Lauri

PY - 2001

Y1 - 2001

N2 - Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine levels is achieved before conception and continued throughout the pregnancy.

AB - Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine levels is achieved before conception and continued throughout the pregnancy.

KW - PAH

KW - PKU

KW - Phe

KW - Phenylalanine

KW - Phenylalanine hydroxylase

KW - Phenylketonuria

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DO - 10.1542/peds.107.2.427

M3 - Short survey

AN - SCOPUS:17744392421

SN - 0031-4005

VL - 107

SP - 427

EP - 428

JO - Pediatrics

JF - Pediatrics

IS - 2

ER -

Maternal phenylketonuria

Abstract

Keywords

ASJC Scopus subject areas

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