Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …

We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the
guidelines, we did a literature search, critical appraisal, and evidence grading according to …

Prevention of congenital cardiovascular defects has been hampered by a lack of information
about modifiable risk factors for abnormalities in cardiac development. Over the past …

Objective This review focuses on risk factors for birth defects including alcohol consumption,
illicit drug use, smoking, obesity, pregestational diabetes, maternal phenylketonuria, multiple …

Dysregulated maternal nutrition, such as vitamin deficiencies and excessive levels of
glucose and fatty acids, increases the risk for congenital heart disease (CHD) in the …

Abstract “Inborn errors of metabolism,” first recognized 100 years ago by Garrod, were seen
as transforming evidence for chemical and biological individuality. Phenylketonuria (PKU), a …

This review discusses the epidemiology, pathophysiology, genetic etiology, and
management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn …

Congenital heart disease (CHD) has many forms and a wide range of causes. Clinically, it is
important to understand the causes. This allows estimation of recurrence rate, guides …

BACKGROUND: The National Institute of Health (NIH) published a Consensus Statement on
the screening and management of Phenylketonuria (PKU) in 2000. The panel involved in …

Congenital aortic valve stenosis (AVS), coarctation of the aorta (COA) and hypoplastic left
heart syndrome (HLHS) are congenital cardiovascular malformations that all involve the left …