Francjan J van Spronsen

Summary

Affiliation: University Medical Center Groningen
Country: The Netherlands

Publications

  1. doi request reprint Key European guidelines for the diagnosis and management of patients with phenylketonuria
    Francjan J van Spronsen
    Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands Electronic address
    Lancet Diabetes Endocrinol . 2017
  2. doi request reprint Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development
    F J van Spronsen
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands
    Mol Genet Metab 104:S45-51. 2011
  3. pmc Single amino acid supplementation in aminoacidopathies: a systematic review
    Danique van Vliet
    Department of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Orphanet J Rare Dis 9:7. 2014
  4. pmc Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis
    Martijn J de Groot
    Department of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Orphanet J Rare Dis 8:133. 2013
  5. doi request reprint Quantitative multivoxel proton spectroscopy of the brain in developmental delay
    Krijn T Verbruggen
    Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, The Netherlands
    J Magn Reson Imaging 30:716-21. 2009
  6. pmc Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study
    Rianne Jahja
    University of Groningen, University Medical Center Groningen, Beatrix Children s Hospital, Division of Metabolic Diseases CA33, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    J Inherit Metab Dis 39:355-62. 2016
  7. doi request reprint Adult patients with well-controlled phenylketonuria tolerate incidental additional intake of phenylalanine
    Margreet van Rijn
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Centre of Groningen, University of Groningen, Groningen, The Netherlands
    Ann Nutr Metab 58:94-100. 2011
  8. doi request reprint Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
    Geertje B Liemburg
    Division of Metabolic Diseases, Beatrix Children s Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Mol Genet Metab 114:425-30. 2015
  9. doi request reprint Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria
    Rianne Jahja
    Division of Metabolic Diseases, University Medical Center Groningen, Beatrix Children s Hospital, University of Groningen, Groningen, The Netherlands Electronic address
    J Pediatr 164:895-899.e2. 2014
  10. pmc A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria
    Vibeke M Bruinenberg
    Molecular Neurobiology, University of Groningen, 9747 AG Groningen, The Netherlands
    Nutrients 8:185. 2016

Collaborators

Detail Information

Publications45

  1. doi request reprint Key European guidelines for the diagnosis and management of patients with phenylketonuria
    Francjan J van Spronsen
    Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands Electronic address
    Lancet Diabetes Endocrinol . 2017
    ..Nutritional, clinical, and biochemical follow-up is necessary for all patients, regardless of therapy...
  2. doi request reprint Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development
    F J van Spronsen
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands
    Mol Genet Metab 104:S45-51. 2011
    ....
  3. pmc Single amino acid supplementation in aminoacidopathies: a systematic review
    Danique van Vliet
    Department of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Orphanet J Rare Dis 9:7. 2014
    ..The aim of the present article is to provide a systematic review on the reasons for applications of single amino acid supplementation in aminoacidopathies treated with natural protein restriction and synthetic amino acid mixtures. ..
  4. pmc Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis
    Martijn J de Groot
    Department of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Orphanet J Rare Dis 8:133. 2013
    ..In this study, we investigated the hypothesis that impaired LNAA influx relates to reduced cerebral protein synthesis...
  5. doi request reprint Quantitative multivoxel proton spectroscopy of the brain in developmental delay
    Krijn T Verbruggen
    Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, The Netherlands
    J Magn Reson Imaging 30:716-21. 2009
    ..To assess whether proton MR spectroscopy of the brain in children with developmental delay reveals a consistent pattern of abnormalities...
  6. pmc Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study
    Rianne Jahja
    University of Groningen, University Medical Center Groningen, Beatrix Children s Hospital, Division of Metabolic Diseases CA33, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    J Inherit Metab Dis 39:355-62. 2016
    ..In this study, it was investigated whether ET-PKU-patients have specific phenylalanine (Phe-)related problems with respect to social-cognitive functioning and social skills...
  7. doi request reprint Adult patients with well-controlled phenylketonuria tolerate incidental additional intake of phenylalanine
    Margreet van Rijn
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Centre of Groningen, University of Groningen, Groningen, The Netherlands
    Ann Nutr Metab 58:94-100. 2011
    ..We investigated day-to-day and week-to-week variations in blood Phe concentration and the effect of an additional Phe load...
  8. doi request reprint Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
    Geertje B Liemburg
    Division of Metabolic Diseases, Beatrix Children s Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Mol Genet Metab 114:425-30. 2015
    ..The aim of this study was to investigate whether the BRIEF is indeed a useful screening instrument in monitoring of adults with PKU...
  9. doi request reprint Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria
    Rianne Jahja
    Division of Metabolic Diseases, University Medical Center Groningen, Beatrix Children s Hospital, University of Groningen, Groningen, The Netherlands Electronic address
    J Pediatr 164:895-899.e2. 2014
    ..An additional aim was to establish the influence of biochemical indices other than Phe on neurocognitive outcomes...
  10. pmc A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria
    Vibeke M Bruinenberg
    Molecular Neurobiology, University of Groningen, 9747 AG Groningen, The Netherlands
    Nutrients 8:185. 2016
    ..PKU mice on a diet supplemented with SNC showed improved expression of PSD-95 in the hippocampus. This study gives the first indication that SNC supplementation has a positive effect on hippocampal synaptic deficits in PKU mice. ..
  11. doi request reprint Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes
    Margreet van Rijn
    Department of Pediatrics, Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center of Groningen, University of Groningen, The Netherlands
    Mol Genet Metab 104:S68-72. 2011
    ..In phenylketonuria (PKU) patients, diurnal fluctuations of blood phenylalanine (Phe) are different from healthy individuals. Until now this pattern has been studied in PKU patients over one year of age...
  12. doi request reprint Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis
    Marieke Hoeksma
    Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Section of Metabolic Diseases, P O Box 30 001, 9700 RB Groningen, The Netherlands
    Mol Genet Metab 96:177-82. 2009
    ..Hence, we speculate that it is important to continue dietary treatment into adulthood, aiming at plasma phenylalanine concentrations <600-800micromol/l...
  13. ncbi request reprint Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model
    Danique van Vliet
    University of Groningen, University Medical Center Groningen, Beatrix Children s Hospital, Groningen, Netherlands
    Am J Clin Nutr 104:1292-1300. 2016
    ....
  14. pmc The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
    Karen Anjema
    University of Groningen, University Medical Center Groningen, Beatrix Children s Hospital, PO Box 30 001, CA33, 9700 RB, Groningen, The Netherlands
    Orphanet J Rare Dis 11:10. 2016
    ..Therefore we compared the predictive value of the neonatal (test I) versus the 48-h BH4 loading test (test II) and long-term BH4 responsiveness...
  15. doi request reprint Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients
    Martijn J de Groot
    Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Mol Genet Metab 105:566-70. 2012
    ..The etiology of reduced bone mineral density (BMD) in phenylketonuria (PKU) is unknown. Reduced BMD may be inherent to PKU and/or secondary to its dietary treatment...
  16. pmc Large neutral amino acids in the treatment of PKU: from theory to practice
    Francjan J van Spronsen
    Department of Pediatrics, Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    J Inherit Metab Dis 33:671-6. 2010
    ..This review summarizes the treatment targets and the treatment regimens of LNAA supplementation and discusses the differences in LNAA intake between the classical dietary phenylalanine-restricted diet and several LNAA treatment forms...
  17. doi request reprint BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations
    Danique van Vliet
    University of Groningen, University Medical Center Groningen, Beatrix Children s Hospital, Groningen, The Netherlands University of Groningen, Center of Behavior and Neurosciences, Department of Molecular Neurobiology, Groningen, The Netherlands
    Mol Genet Metab 114:29-33. 2015
    ....
  18. doi request reprint Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay
    Krijn T Verbruggen
    Beatrix Children s Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Eur J Paediatr Neurol 13:181-90. 2009
    ....
  19. ncbi request reprint Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology
    Krijn T Verbruggen
    Beatrix Children s Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
    Mol Genet Metab 91:294-6. 2007
    ..Addition of high dose ornithine to the treatment led to further normalization of plasma GAA, while cerebral Cr and GAA did not improve further...
  20. doi request reprint PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings
    Karen Anjema
    Beatrix Children s Hospital, University Medical Centre Groningen, University of Groningen, Section of Metabolic Diseases, The Netherlands
    Mol Genet Metab 104:231-4. 2011
    ..The interviewer as well as the respondents were blinded with regard to the phenylalanine concentration...
  21. doi request reprint Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes
    Willemijn J Van Rijt
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Neonatology 109:297-302. 2016
    ....
  22. pmc Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice
    Danique van Vliet
    University of Groningen, University Medical Center Groningen, Beatrix Children s Hospital, Groningen, The Netherlands
    PLoS ONE 10:e0143833. 2015
    ....
  23. ncbi request reprint 1H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU)
    Paul E Sijens
    Department of Radiology, University Hospital Groningen, Hanzeplein 1, P O Box 30001, Groningen, The Netherlands
    Eur Radiol 14:1895-900. 2004
    ..Best results were obtained at TE=135 ms, relating to the fact that at that particular TE, the visibility of a compound with a T2 of 215 ms still is good, while interfering signals from short-TE compounds are negligible...
  24. doi request reprint Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages
    Inge Vugteveen
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Centre of Groningen, University of Groningen, Groningen, The Netherlands
    Mol Genet Metab 102:13-7. 2011
    ..Phenylketonuria (PKU) patients are at risk for functional vitamin B(12) deficiency based on their diet...
  25. doi request reprint Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure
    Paul E Sijens
    Department of Radiology, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Eur Radiol 18:2601-9. 2008
    ....
  26. doi request reprint Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice
    Priscila Nicolao Mazzola
    Department of Molecular Neurobiology, Groningen Institute for Evolutionary Life Sciences GELIFES University of Groningen, Nijenborgh 7, 9747 AG, Groningen, The Netherlands
    JIMD Rep 27:69-77. 2016
    ..This study aimed to verify the effects of exercise on coordination and balance, plasma and brain amino acid levels, and brain oxidative stress markers in PKU mice...
  27. doi request reprint What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?
    Esther van Dam
    Department of Dietetics, University of Groningen, University Medical Center Groningen, Beatrix Children s Hospital, Groningen, The Netherlands
    JIMD Rep . 2017
    ..Treatment of hereditary tyrosinemia type 1 with nitisinone and phenylalanine and tyrosine restricted diet has largely improved outcome, but the best blood sampling time for assessment of metabolic control is not known...
  28. pmc Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
    Willem G van Ginkel
    University of Groningen, Beatrix Children s Hospital, University Medical Center Groningen, 9700 RB, Groningen, The Netherlands
    Orphanet J Rare Dis 11:87. 2016
    ..However, the neuropsychological profile of these patients is unknown. Therefore, this study aimed to investigate this neuropsychological profile by comparing HT1 patients with healthy controls...
  29. doi request reprint Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study
    Rianne Jahja
    Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands Electronic address
    Mol Genet Metab 110:S57-61. 2013
    ..These preliminary results underline the importance of early dietary adherence...
  30. doi request reprint Future treatment strategies in phenylketonuria
    Francjan J van Spronsen
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Centre of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    Mol Genet Metab 99:S90-5. 2010
    ..These therapeutic strategies propose to treat PKU at various levels, including nutritional intake, gut, liver, and blood-brain barrier, and have the potential to further improve outcome in PKU...
  31. ncbi request reprint A different approach to breast-feeding of the infant with phenylketonuria
    Margreet van Rijn
    Department of Dietetics, University Medical Centre Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    Eur J Pediatr 162:323-6. 2003
    ..Compared to a routine where both bottle and breast are offered at each feeding, this new approach is more convenient for the parents and the child will be able to empty the breast, therefore drinking not only foremilk but also hindmilk...
  32. ncbi request reprint Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation
    Krijn T Verbruggen
    University Medical Center Groningen, Beatrix Children s Hospital, University of Groningen, Groningen, The Netherlands
    Eur J Pediatr 166:921-5. 2007
    ....
  33. doi request reprint A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake
    Margreet van Rijn
    Department of Pediatrics, Beatrix Children s Hospital, University of Groningen, Groningen, The Netherlands
    J Am Diet Assoc 108:1704-7. 2008
    ..Therefore, in addition to exact measurement, patients should be instructed in both methods at an early age, so that both methods can be used adequately...
  34. doi request reprint Phenylketonuria management from an European perspective: a commentary
    Francjan J van Spronsen
    Beatrix Children s Hospital, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands
    Mol Genet Metab 100:107-10. 2010
    ....
  35. pmc Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I
    Martijn J de Groot
    Department of Pediatrics, Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB Groningen, The Netherlands
    J Inherit Metab Dis 33:S413-6. 2010
    ..Therefore, urea cycle disorders should be included in the differential diagnosis in young children presenting with acute liver failure. ..
  36. pmc Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis
    Martijn J de Groot
    1 Department of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands 2 Department of Digestive and Metabolic Diseases, Center for Liver, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Cereb Blood Flow Metab 35:200-5. 2015
    ..In conclusion, our study shows an inverse association between k3 and increased brain phenylalanine concentrations. ..
  37. pmc Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease
    Irene J Hoogeveen
    Section of Metabolic Diseases, Beatrix Children s Hospital, University of Groningen, University Medical Center Groningen, 30 001, 9700 RB, Groningen, The Netherlands
    JIMD Rep 28:41-47. 2016
    ..According to the textbooks, the ketotic glycogen storage disease (GSD) types 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia and considered milder as gluconeogenesis is intact...
  38. pmc Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles
    M Rebecca Heiner-Fokkema
    Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Room Y2 125, HPA EA60, 30 001, NL 9700 RB, Groningen, The Netherlands
    JIMD Rep . 2016
    ....
  39. doi request reprint Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone
    Fatiha Bendadi
    Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
    J Pediatr 164:398-401. 2014
    ..To examine cognitive functioning in patients with tyrosinemia type I treated with nitisinone and a protein-restricted diet...
  40. pmc Mild hyperphenylalaninemia: to treat or not to treat
    Francjan J van Spronsen
    Beatrix Children s Hospital, Groningen, Netherlands
    J Inherit Metab Dis 34:651-6. 2011
    ....
  41. ncbi request reprint Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease
    Marieke Hoeksma
    Section of Metabolic Diseases, Department of Paediatrics, Beatrix Children s Hospital, University Medical Centre Groningen, 9700 RB, Groningen, The Netherlands
    Eur J Pediatr 166:871-4. 2007
    ..This case demonstrates that increased transaminases do not always suggest liver disease. It is hard to determine prognosis and to decide whether enzyme replacement therapy should be started in asymptomatic patients with Pompe disease...
  42. doi request reprint Phenylketonuria: a 21st century perspective
    Francjan J van Spronsen
    Beatrix Children s Hospital, University Medical Center of Groningen, PO Box 30 001, 9700 RB Groningen, The Netherlands
    Nat Rev Endocrinol 6:509-14. 2010
    ..This Review provides an overview of the history of phenylketonuria, the challenges of treatment today and the treatment possibilities in the near future...
  43. ncbi request reprint Safe and unsafe duration of fasting for children with MCAD deficiency
    Terry G J Derks
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB, Groningen, The Netherlands
    Eur J Pediatr 166:5-11. 2007
    ....
  44. ncbi request reprint Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence
    Renske S Rijlaarsdam
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center of Groningen, Groningen, The Netherlands
    Pacing Clin Electrophysiol 27:675-6. 2004
    ..The patient fully recovered after carnitine supplementation. Recognition of this disease is important because its treatment is easy and effective...
  45. ncbi request reprint Influence of knowledge of the disease on metabolic control in phenylketonuria
    Jolita Bekhof
    Department of Paediatrics, Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center, Groningen, The Netherlands
    Eur J Pediatr 162:440-2. 2003