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

@article{Macdonald2015TheCO,
  title={The challenges of managing coexistent disorders with phenylketonuria: 30 cases.},
  author={Anita Macdonald and Kirsten K Ahring and M F Almeida and Amaya B{\'e}langer-Quintana and Nenad Blau and Alessandro P Burlina and Maureen Cleary and T. Coskum and Katharina Dokoupil and Sharon Evans and François Feillet and Maria Giżewska and Hulya Gokmen Ozel and Amelie S Lotz-Havla and Elżbieta Kamieńska and François Maillot and Anna Maria Lammardo and Ania C. Muntau and Alexandra Puchwein-Schwepcke and Martine Robert and J{\'u}lio C{\'e}sar Rocha and Saikat Santra and Rachel Skeath and K. Strączek and Friedrich Trefz and Esther van Dam and Margreet van Rijn and Francjan J. van Spronsen and Suresh Vijay},
  journal={Molecular genetics and metabolism},
  year={2015},
  volume={116 4},
  pages={
          242-51
        }
}
INTRODUCTION The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. [...] Key MethodRESULTS 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.Expand
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
TLDR
The prevalence of selected comorbidities across several organ systems is significantly higher among PKU patients than for general population controls, and regular screening for common co-morbidities may be warranted as part of PKU management. Expand
Phenylketonuria and juvenile idiopathic arthritis: a case report
TLDR
A rare case of a 4-year-old girl with PKU and JIA is reported, which supports a possible interaction between PKUand Juvenile Idiopathic Arthritis. Expand
Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation
TLDR
This case is the first case to be described in the literature of the comorbidity of PKU and Hirschsprung disease with unusual neonatal presentation and the boy is additionally compound heterozygous for two mutations in the phenylalanine hydroxylase (PAH) gene, which confirmed BH4-responsive PKU. Expand
The complete European guidelines on phenylketonuria: diagnosis and treatment
TLDR
Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant and knowledge gaps are identified which require further research in order to direct better care for the future. Expand
Phenylketonuria, co‐morbidity, and ageing: A review
TLDR
Findings suggest PKU to have a wider impact than brain development, and result in several intriguing questions that require investigation to attain the best outcomes for people with PKU in adulthood moving through to older age. Expand
[Singleton and twin pregnancies of PKU patients - individual variability of phenylalanine tolerance: experience of a single treatment center (Preliminary report)].
TLDR
Individual Phe tolerance in singleton pregnancies of PKU patients does not predict tolerance in twin pregnancy and the analysis of predictors for Pheolerance showed that an individual's weight gain and the fetal weight gain as estimated from liveborn birth-weight data had no predictive capacity. Expand
Polymorphic Variants of BH4 Pathway Genes and Isolated Hypospadias Risk
TLDR
Investigating the association of selected polymorphic variants of BH4 pathway genes with hypospadias found no evidence for either allelic or genotypic association with the risk of HS for the tested nucleotide variants. Expand
Metabolic control in patients with Phenylketonuria (PKU): impact of phenylalanine titration for BH4 loading test
Background: In Portugal, for PKU, all potential BH4 responders are identified using a loading test (LT). Phenylalanine (Phe)/natural protein (NP) intake is increased to elevate blood [Phe] > 480Expand
Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test:
In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate...

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