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

  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},
  volume={116 4},
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.
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
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
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
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
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)].
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
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...


Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report
This is the first report of co-existence of FD and PKU, two different congenital inborn of metabolism and in consideration of the prevalence of each disease this chance association is a very unusual event. Expand
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?
CPP is described for the first time in a girl affected with PKU but with persistently well controlled blood phenylalanine concentrations, which strongly suggests this rare association is coincidental and independent of the presence of severe hyperphenylalaninemia. Expand
Classical phenylketonuria associated with Goldenhar's syndrome. A case report.
Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnosed in a six-month-old male infant who was referred to Hacettepe Children's Hospital for evaluation of developmental delay. ThereExpand
Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: A 7‐year follow‐up
The child with classical phenylketonuria who developed acute lymphoblastic leukemia is currently in remission from ALL and has a normal neurodevelopmental outcome 7 years after the ALL diagnosis. Expand
Coexistence of cystic fibrosis and phenylketonuria.
A female infant born by normal delivery at 39 weeks gestation to parents who believed that they were distantly related was diagnosed with abnormal phenylalanine result from routine neonatal Guthrie card screening and started on XP Analog together with 60 ml SMA Gold Cap for 3 days increasing to 210 ml S MA Gold Cap to provide a small but essential amount of phenylAlanine. Expand
Phenylketonuria and cystic fibrosis in the same patient
A 2-month-old boy with PKU and CF is described, which means that the probability of the presence of these two inborn errors in the same patient must be low and it has not been described in the literature before. Expand
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
Evidence is provided that treatment with pharmacological doses of SD appears to be efficient and safe in women with PKU during pregnancy, and its use should, however, be restricted to those women previously identified to be clear responders to BH4. Expand
Phenylketonuria and glycogen storage disease type III in sibs of one family.
A Turkish family is described in which two girls were found to have phenylketonuria, while in two other sisters glycogen storage disease type III was diagnosed, and the inheritance is autosomal recessive. Expand
Hereditary fructose intolerance in a patient with phenylketonuria.
The occurrence of these two defects in the same patient is thought to be fortuitous and not genetically related since this is the first reported case and the statistical probability of such an occurrence is very low. Expand
True Precocious Puberty Associated with Phenylketonuria
Elevated serum phenylalanine levels in this patient, due to poor compliance with the phenylketonuria restricted diet, may be related to the early onset of puberty. Expand