Murphy E;
Pregnancy in women with inherited metabolic disease;
Obstetric Medicine 2015 Vol 8 (2) 61-67

This review article talks about different reproductive stages and the impact a metabolic disorder might have on those stages.  The article covers the preconception period, genetic considerations, and different stages of pregnancy as well as labour, delivery and after pregnancy.  The author lists research evidence about the negative impact of raised phenylalanine which can occur throughout the whole of pregnancy.

The negative outcomes which can occur, include:

  • Significant increased risk of congenital heart disease in weeks 0-8
  • Facial Changes in weeks 8-12
  • Brain, foetal or postnatal growth retardation
  • Neurological deficits throughout the 40 weeks of pregnancy in a dose-dependent manner (that is, the higher the phe, the worse the deficit is likely to be).

Read the full research here.


S.E. Waisbren, F. Rohr, V. Anastasoaie, M. Brown, D. Harris, A. Ozonoff, S. Petrides, A. Wessel, H.L. Levy;
Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics;
JIMD Reports DOI 10.1007/8904_2014_365

In this study, physical examinations, a medical history, and neuropsychological evaluation were obtained in 47 children from 24 mothers with PKU who received treatment during pregnancy.  The children ranged in age from 1 month to 26 years old – two thirds were older than 6 years old.

Among the 24 mothers, 12 reported following the diet for PKU. Only one woman on diet had a blood phenylalanine concentration <360 mmol/L (recommended range).  Mean offspring IQ was 94, with 12% performing in the range of intellectual disability (IQ of less than 70).  Among children over 5 years of age, 25% had learning disabilities, 31% had attention deficit hyperactivity disorder (ADHD), 22% were on ADHD medication, and 34% had a diagnosis of anxiety and/or depression.   The offspring IQ measurements were linked to maternal metabolic control during pregnancy, as well as maternal IQ and socio-economic position.

Read the full research here.


Rachel M. Roberts, Tamara Muller, Annabel Sweeney, Drago Bratkovic, Anne Gannoni;
Promoting psychological well-being in women with phenylketonuria: Pregnancy-related stresses, coping strategies and supports;
Molecular Genetics and Metabolism Reports 1 (2014) 148–157

Psychologists and dietitians in Australia aimed to explore the pregnancy-related stresses for women with PKU and what strategies for stress management they use or plan to use when considering pregnancy.

The stresses and stress reduction plans are reported through this paper, which is based on in-depth interviews with 8 women who had PKU and who had either been pregnant, were pregnant at the point of interview or were planning pregnancy.  (The women who had had children, had 8 healthy children between them, though some adverse experiences had occurred – these are reported as not relating to PKU).

The Transactional Model of Stress and Coping was used to understand the coping strategies and supports that women used or planned to use during pregnancy.

Key coping strategies are reported as:  knowledge seeking, positive reappraisal, and reassurance seeking – support from both key healthcare professionals and from other mothers with PKU was key for all women.

Read the full research here.