The challenges of managing coexistent disorders with phenylketonuria: 30 cases

A MacDonald, K Ahring, M F Almeida, A Belanger-Quintana, N Blau, A Burlina, M Cleary, T Coskum, K Dokoupil, S Evans, F Feillet, M Giżewska, H Gokmen Ozel, A S Lotz-Havla, E Kamieńska, F Maillot, A M Lammardo, A C Muntau, A Puchwein-Schwepcke, M RobertJ C Rocha, S Santra, R Skeath, K Strączek, F K Trefz, E van Dam, M van Rijn, F van Spronsen, S Vijay

11 Citationer (Scopus)


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 14years (range 0.4 to 40years) 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 12weeks. 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.

TidsskriftMolecular Genetics and Metabolism
Udgave nummer4
Sider (fra-til)242-51
Antal sider10
StatusUdgivet - dec. 2015


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