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The challenges of managing coexistent disorders with phenylketonuria: 30 cases

A. Macdonald 1 K. Ahring 2 F. Almeida 3 A. Belanger-Quintana 4 N. Blau 5 A. Burlina 6 M. Cleary 7 T. Coskum 8 K. Dokoupil 9 S. Evans 1 F. Feillet 10, 11 M. Giżewska 12 H. Gokmen Ozel 13 S. Lotz-Havla 14 E. Kamieńska 12 F. Maillot 15, 16 M. Lammardo 17 A. Muntau 18 A. Puchwein-Schwepcke 14 M. Robert 19 J.C. Rocha 20 S. Santra 1 R. Skeath 7 K. Strączek 12 F. Trefz 21 E. van Dam 22 M. van Rijn 22 F. van Spronsen 22 S. Vijay 1 
Abstract : 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.
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A. Macdonald, K. Ahring, F. Almeida, A. Belanger-Quintana, N. Blau, et al.. The challenges of managing coexistent disorders with phenylketonuria: 30 cases. Molecular Genetics and Metabolism, 2015, 116 (4), pp.242 - 251. ⟨10.1016/j.ymgme.2015.10.001⟩. ⟨hal-01685617⟩



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