Abstracts for the 36th Human Genetics Society of Australasia Annual Scientific Meeting Canberra, Australia, July 22–25, 2012
Twin Research and Human Genetics
Evidence suggests children with phenylketonuria (PKU) weigh more than children without PKU. A tendency towards excessive weight gain has been shown in PKU adolescents. Little is known about the weight status of adults with PKU. In Australia, as in other countries, obesity rates are escalating. Associated medical complications are a growing public health concern. Aim: To evaluate the rates of overweight and obesity in adults with PKU. Subjects: Adults with PKU diagnosed either via newborn
... ng (NBS) or late, following a restricted protein diet and taking a phenylalanine free supplement, seen at the Royal Adelaide Hospital metabolic clinic in the previous 4 years were included in the audit. Methods: Weights and heights were taken from medical records. 12 month average phenylalanine levels were calculated. Overweight and obesity rates were compared to national general population data. Available fasting blood glucose levels and lipid profiles were reviewed. Results: 31 adults (21 NBS) were included in the audit. PKU adults had higher rates of obesity (45% vs.18 to 21%) and lower rates of overweight (19% vs. 40%) compared to the general population. Weight status was not significantly associated with average phenylalanine levels or time of PKU diagnosis. Limited data raise the possibility that obese related metabolic complications in this group are lower than expected. Conclusion: This adult PKU population had high rates of obesity, the cause of which needs to be explored. The characteristics of the diet for PKU means investigating obese related metabolic complications in this group may be of interest.