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The challenges of managing coexistent disorders with phenylketonuria: 30 cases

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  • 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 Robert
  • J C Rocha
  • S Santra
  • R Skeath
  • K Strączek
  • F K Trefz
  • E van Dam
  • M van Rijn
  • F van Spronsen
  • S Vijay
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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.

Original languageEnglish
JournalMolecular Genetics and Metabolism
Volume116
Issue number4
Pages (from-to)242-51
Number of pages10
ISSN1096-7192
DOIs
Publication statusPublished - Dec 2015

ID: 46010638