Logo Medical Science Monitor Basic Research

Call: 1.631.470.9640
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo Medical Science Monitor Basic Research Logo Medical Science Monitor Basic Research Logo Medical Science Monitor Basic Research

30 October 1998

Maternal phenylketonuria: management and nutritional support

Krzysztof Borski

Med Sci Monit 1998; 4(6): RA1116-1121 :: ID: 501950

Abstract

Maternal phenylketonuria and hyperphenylalaninemia are at present the most disturbing issue in phenylketonuria. Causing an embryopathy and fetopathy compromising growth and resulting in mental retardation, microcephaly, congenital defects and low birth weight. The problem of maternal phenylketonuria and hyperphenylalaninemia is a direct effect of successful newborn screening for phenylketonuria as well as early and consistent dietary treatment. Before the screening was widely introduced most women with phenylketonuria were mentally retarded and only few of them had children. Advantages of the screening for phenylketonuria in one generation can be lost in the next one unless a preventive treatment is maintained in a high proportion of affected women. The proper management of maternal phenylketonuria and hyperphenylalaninemia requires coordinated efforts in many areas, such as: obstetric and antenatal care, dietary treatment, biochemical research and control, psychological assessments, teratogenesis, ethics and counselling. In order to achieve good results in treating women with phenylketonuria and hyperphenylalaninemia and to prevent complications in their offspring, it is recommended to create national phenylketonuria and hyperphenylalaninemia register and to introduce regional programmes of support for the women a risk.

Keywords: phenylketonuria (PKU), maternal phenylketonuria (MPKU), hyperphenylalaninemia (HPA), Pregnancy Outcome, phenylalanine restricted diet

Comments

Most Viewed Current Articles

13 Apr 2020 : Original article  

Outcome of 24 Weeks of Combined Schroth and Pilates Exercises on Cobb Angle, Angle of Trunk Rotation, Chest...

DOI :10.12659/MSMBR.920449

Med Sci Monit Basic Res 2020; 26:e920449

11 May 2020 : Original article  

Analysis of Psychological and Sleep Status and Exercise Rehabilitation of Front-Line Clinical Staff in the ...

DOI :10.12659/MSMBR.924085

Med Sci Monit Basic Res 2020; 26:e924085

05 Jan 2021 : Review article  

A Southeast Asian Perspective on the COVID-19 Pandemic: Hemoglobin E (HbE)-Trait Confers Resistance Against...

DOI :10.12659/MSMBR.929207

Med Sci Monit Basic Res 2021; 27:e929207

10 Aug 2020 : Clinical Research  

Effects of Cognitive Task Training on Dynamic Balance and Gait of Patients with Stroke: A Preliminary Rando...

DOI :10.12659/MSMBR.925264

Med Sci Monit Basic Res 2020; 26:e925264

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor Basic Research eISSN: 2325-4416
Medical Science Monitor Basic Research eISSN: 2325-4416