Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria.

Abstract:

:Hyperphenylalaninemia in preterm neonates with heterozygosity for phenylketonuria has previously not been described. We report on a very low birth weight infant, born at a gestational age of 27+5 weeks with a birth weight of 1080 g. Due to a positive family history prenatal diagnosis for phenylketonuria was performed, revealing heterozygosity for classic phenylketonuria. Yet the girl showed hyperphenylalaninemia with a maximum serum phenylalanine concentration of 515 micromol/l on the eighth day of life. Phenylalanine-restrictive parenteral and enteral nutrition was kept from the eighth until the 41st day of life. At term serum phenylalanine concentrations had normalized. We hypothesize that heterozygosity for phenylketonuria may be a risk factor for hyperphenylalaninemia in preterm born infants. Prematurity and the resulting immaturity of liver function with the genetically determined reduced activity of phenylalanine hydroxylase might have caused hyperphenylalaninemia in this girl.

journal_name

J Perinat Med

authors

Hennermann JB,Loui A,Weber A,Mönch E

doi

10.1515/JPM.2004.073

keywords:

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

383-5

issue

4

eissn

0300-5577

issn

1619-3997

journal_volume

32

pub_type

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