The challenges of managing coexistent disorders with phenylketonuria: 30 cases.

INTRODUCTION: The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The clinical and demographic features of 30 subjects with PKU and co-existent conditions were described in this multi-centre, retrospective cohort study. METHODS: Diagnostic age of PKU and co-existent condition, treatment regimen, and impact of co-existent condition on blood phenylalanine (Phe) control and PKU management were reported. RESULTS: 30 patients (11 males and 19 females), with PKU and a co-existent condition, current median age of 14 years (range 0.4 to 40 years) from 13 treatment centres from Europe and Turkey were described. There were 21 co-existent conditions with PKU; 9 were autoimmune; 6 gastrointestinal, 3 chromosomal abnormalities, and 3 inherited conditions. There were only 5 cases of parental consanguinity. Some patients required conflicting diet therapy (n=5), nutritional support (n=7) and 5 children had feeding problems. There was delayed diagnosis of co-existent conditions (n=3); delayed treatment of PKU (n=1) and amenorrhea associated with Grave's disease that masked a PKU pregnancy for 12 weeks. Co-existent conditions adversely affected blood Phe control in 47% (n=14) of patients. Some co-existent conditions increased the complexity of disease management and increased management burden for patients and caregivers. CONCLUSIONS: Occurrence of co-existent disease is not uncommon in patients with PKU and so investigation for co-existent disorders when the clinical history is not completely consistent with PKU is essential. Integrating care of a second condition with PKU management is challenging.

Use of low-glycaemic index bread to reduce 24-h blood glucose: implications for dietary advice to non-diabetic and diabetic subjects.

The present study investigated the effect of a simple dietary change on 24-h blood glucose. In a randomized cross-over design, 10 healthy subjects were prescribed a low-glycaemic-index (LGI) diet and a high-glycaemic-index (HGI) diet. The diets were identical with the exception of the type of bread consumed (LGI or HGI). Glucose concentrations over 24 h were measured using a continuous glucose monitoring system. The LGI diet resulted in a lower mean glucose response compared with the HGI diet over 24 h (P=0.135), during the day (P=0.171) and at night (P=0.100). Similarly, the 24-h, daytime and overnight incremental area under the curve for glucose following the LGI diet was consistently lower than following the HGI diet (P=0.093, P=0.132 and P=0.061, respectively). The results demonstrate how a very simple dietary change can favourably alter overall blood glucose concentrations. Such small modifications to the diet, if adopted in the long term, could improve glucose control and consequently reduce the risk of chronic disease in both diabetic and non-diabetic individuals.