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Article ; Online: Caring for Ukrainian refugee children with acute and chronic diseases.

Giżewska, Maria / van Wegberg, Annemiek M J / Maillot, François / Trefz, Friedrich / van Spronsen, Francjan J

2022 Volume 399, Issue 10336, Page(s) 1689

MeSH term(s)	Child ; Chronic Disease ; Ethnicity ; Humans ; Refugees
Language	English
Publishing date	2022-04-11
Publishing country	England
Document type	Letter
ZDB-ID	3306-6
ISSN	1474-547X ; 0023-7507 ; 0140-6736
ISSN (online)	1474-547X
ISSN	0023-7507 ; 0140-6736
DOI	10.1016/S0140-6736(22)00578-5
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Zs.MG 94: Show issues

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Article ; Online: Preventive use of nitisinone in alkaptonuria.

Wolffenbuttel, Bruce H R / Heiner-Fokkema, M Rebecca / van Spronsen, Francjan J

Orphanet journal of rare diseases

2021 Volume 16, Issue 1, Page(s) 343

Abstract: Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalities and renal problems. Landmark intervention ...

Abstract	Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalities and renal problems. Landmark intervention studies with nitisinone 10 mg daily, suppressing an upstream enzyme activity, demonstrated its beneficial effects in AKU patients with established complications, which usually start to develop in the fourth decade. Lower dose of nitisinone in the range of 0.2-2 mg daily will already reduce urinary homogentisic acid (uHGA) excretion by > 90%, which may prevent AKU-related complications earlier in the course of the disease while limiting the possibility of side-effects related to the increase of plasma tyrosine levels caused by nitisinone. Future preventive studies should establish the lowest possible dose for an individual patient, the best age to start treatment and also collect evidence to which level uHGA excretion should be reduced to prevent complications.
MeSH term(s)	Alkaptonuria/drug therapy ; Cyclohexanones/therapeutic use ; Humans ; Nitrobenzoates/therapeutic use ; Tyrosine
Chemical Substances	Cyclohexanones ; Nitrobenzoates ; Tyrosine (42HK56048U) ; nitisinone (K5BN214699)
Language	English
Publishing date	2021-08-03
Publishing country	England
Document type	Letter
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-021-01977-0
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Article ; Online: High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.

Eskandari, Siawosh K / Revenich, Elisabeth G M / Pot, Dirk J / de Boer, Foekje / Bierings, Marc / van Spronsen, Francjan J / van Hasselt, Peter M / Lindemans, Caroline A / Lubout, Charlotte M A

The New England journal of medicine

2024 Volume 390, Issue 7, Page(s) 623–629

Abstract: Wolman's disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement therapy (ERT) in combination with dietary ...

Abstract	Wolman's disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement therapy (ERT) in combination with dietary fat restriction prolongs life, its therapeutic effect may wane over time. Allogeneic hematopoietic stem-cell transplantation (HSCT) offers a more definitive solution but carries a high risk of death. Here we describe an infant with Wolman's disease who received high-dose ERT, together with dietary fat restriction and rituximab-based B-cell depletion, as a bridge to early HSCT. At 32 months, the infant was independent of ERT and disease-free, with 100% donor chimerism in the peripheral blood.
MeSH term(s)	Humans ; Infant ; B-Lymphocytes/drug effects ; B-Lymphocytes/immunology ; Chimerism ; Dietary Fats/adverse effects ; Enzyme Replacement Therapy/methods ; Hematopoietic Stem Cell Transplantation/methods ; Immunologic Factors/therapeutic use ; Rituximab/therapeutic use ; Transplantation, Homologous ; Wolman Disease/diet therapy ; Wolman Disease/drug therapy ; Wolman Disease/immunology ; Wolman Disease/therapy
Chemical Substances	Dietary Fats ; Immunologic Factors ; Rituximab (4F4X42SYQ6)
Language	English
Publishing date	2024-02-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMoa2313398
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Article ; Online: Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals.

Kuypers, Allysa M / Vliet, Kimber Evers-van / MacDonald, Anita / Ahring, Kirsten / Abeln, David / Ford, Suzanne / Hildebrandt-Karlsen, Sanne / van Spronsen, Francjan J / Heiner-Fokkema, M Rebecca

Molecular genetics and metabolism

2024 Volume 142, Issue 1, Page(s) 108361

Abstract: Introduction: Phenylketonuria (PKU) requires regular phenylalanine monitoring to ensure optimal outcome. However, home sampling methods used for monitoring suffer high pre-analytical variability, inter-laboratory variability and turn-around-times, ... ...

Abstract	Introduction: Phenylketonuria (PKU) requires regular phenylalanine monitoring to ensure optimal outcome. However, home sampling methods used for monitoring suffer high pre-analytical variability, inter-laboratory variability and turn-around-times, highlighting the need for alternative methods of home sampling or monitoring. Methods: A survey was distributed through email and social media to (parents of) PKU patients and professionals working in inherited metabolic diseases in Denmark, The Netherlands, and United Kingdom regarding satisfaction with current home sampling methods and expectations for future point-of-care testing (POCT). Results: 210 parents, 156 patients and 95 professionals completed the survey. Countries, and parents and patients were analysed together, in absence of significant group differences for most questions. Important results are: 1) Many patients take less home samples than advised. 2) The majority of (parents of) PKU patients are (somewhat) dissatisfied with their home sampling method, especially with turn-around-times (3-5 days). 3) 37% of professionals are dissatisfied with their home sampling method and 45% with the turn-around-times. 4) All responders are positive towards developments for POCT: 97% (n = 332) of (parents of) patients is willing to use a POC-device and 76% (n = 61) of professionals would recommend their patients to use a POC-device. 5) Concerns from all participants for future POC-devices are costs/reimbursements and accuracy, and to professionals specifically, accessibility to results, over-testing, patient anxiety, and patients adjusting their diet without consultation. Conclusion: The PKU community is (somewhat) dissatisfied with current home sampling methods, highlighting the need for alternatives of Phe monitoring. POCT might be such an alternative and the community is eager for its arrival.
Language	English
Publishing date	2024-02-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2024.108361
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Article ; Online: Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?

Evers, Roeland A F / van Wegberg, Annemiek M J / MacDonald, Anita / Huijbregts, Stephan C J / Leuzzi, Vincenzo / van Spronsen, Francjan J

Nutrients

2022 Volume 14, Issue 18

Abstract: Purpose: this systematic review aimed to assess the effects of dietary liberalization following tetrahydrobiopterin (BH: Methods: the PubMed, Cochrane, and Embase databases were searched on 7 April 2022. We included studies that reported on the ... ...

Abstract	Purpose: this systematic review aimed to assess the effects of dietary liberalization following tetrahydrobiopterin (BH Methods: the PubMed, Cochrane, and Embase databases were searched on 7 April 2022. We included studies that reported on the aforementioned domains before and after dietary liberalization as a result of BH Results: twelve studies containing 14 cohorts and 228 patients were included. Single studies reported few significant differences. Two out of fifteen primary meta-analyses were significant; BMI was higher in BH Conclusion: there is no clear evidence that dietary liberalization after BH
MeSH term(s)	Biopterins/analogs & derivatives ; Biopterins/therapeutic use ; Humans ; Phenylalanine ; Phenylketonurias/drug therapy ; Quality of Life
Chemical Substances	Biopterins ; Phenylalanine (47E5O17Y3R) ; sapropterin (EGX657432I)
Language	English
Publishing date	2022-09-19
Publishing country	Switzerland
Document type	Journal Article ; Review ; Systematic Review
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu14183874
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Article ; Online: Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.

Evers, Roeland A F / van Vliet, Danique / van Spronsen, Francjan J

Journal of inherited metabolic disease

2019 Volume 43, Issue 2, Page(s) 189–199

Abstract: In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine-restricted diet can prevent severe intellectual impairment. Nevertheless, outcome remains suboptimal in some patients asking for ... ...

Abstract	In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine-restricted diet can prevent severe intellectual impairment. Nevertheless, outcome remains suboptimal in some patients asking for additional treatment strategies. Tetrahydrobiopterin (BH
MeSH term(s)	Biopterins/analogs & derivatives ; Biopterins/therapeutic use ; Cognition ; Humans ; Infant, Newborn ; Neonatal Screening ; Oxidative Stress ; Phenylalanine/blood ; Phenylketonurias/drug therapy ; White Matter
Chemical Substances	Biopterins ; Phenylalanine (47E5O17Y3R) ; sapropterin (EGX657432I)
Language	English
Publishing date	2019-08-20
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12151
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Article ; Online: Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.

Feillet, François / Ficicioglu, Can / Lagler, Florian B / Longo, Nicola / Muntau, Ania C / Burlina, Alberto / Trefz, Friedrich K / van Spronsen, Francjan J / Arnoux, Jean-Baptiste / Lindstrom, Kristin / Lilienstein, Joshua / Clague, Gillian E / Rowell, Richard / Burton, Barbara K

Journal of inherited metabolic disease

2024

Abstract: Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth ... ...

Abstract	Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth defects. Sapropterin dihydrochloride helps maintain blood Phe control, but there is limited evidence on its risk-benefit ratio when used during pregnancy. Data from the maternal sub-registries-KAMPER (NCT01016392) and PKUDOS (NCT00778206; PKU-MOMs sub-registry)-were collected to assess the long-term safety and efficacy of sapropterin in pregnant women in a real-life setting. Pregnancy and infant outcomes, and the safety of sapropterin were assessed. Final data from 79 pregnancies in 57 women with PKU are reported. Sapropterin dose was fairly constant before and during pregnancy, with blood Phe levels maintained in the recommended target range during the majority (82%) of pregnancies. Most pregnancies were carried to term, and the majority of liveborn infants were reported as 'normal' at birth. Few adverse and serious adverse events were considered related to sapropterin, with these occurring in participants with high blood Phe levels. This report represents the largest population of pregnant women with PKU exposed to sapropterin. Results demonstrate that exposure to sapropterin during pregnancy was well-tolerated and facilitated maintenance of blood Phe levels within the target range, resulting in normal delivery. This critical real-world data may facilitate physicians and patients to make informed treatment decisions about using sapropterin in pregnant women with PKU and in women of childbearing age with PKU who are responsive to sapropterin.
Language	English
Publishing date	2024-03-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12724
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Article ; Online: Phenylketonuria.

van Spronsen, Francjan J / Blau, Nenad / Harding, Cary / Burlina, Alberto / Longo, Nicola / Bosch, Annet M

Nature reviews. Disease primers

2021 Volume 7, Issue 1, Page(s) 36

Abstract: Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain ... ...

Abstract	Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems. The prevalence varies worldwide, with an average of about 1:10,000 newborns. Early diagnosis is based on newborn screening, and if treatment is started early and continued, intelligence is within normal limits with, on average, some suboptimal neurocognitive function. Dietary restriction of phenylalanine has been the mainstay of treatment for over 60 years and has been highly successful, although outcomes are still suboptimal and patients can find the treatment difficult to adhere to. Pharmacological treatments are available, such as tetrahydrobiopterin, which is effective in only a minority of patients (usually those with milder PKU), and pegylated phenylalanine ammonia lyase, which requires daily subcutaneous injections and causes adverse immune responses. Given the drawbacks of these approaches, other treatments are in development, such as mRNA and gene therapy. Even though PAH deficiency is the most common defect of amino acid metabolism in humans, brain dysfunction in individuals with PKU is still not well understood and further research is needed to facilitate development of pathophysiology-driven treatments.
MeSH term(s)	Genetic Therapy ; Humans ; Infant, Newborn ; Neonatal Screening ; Phenylalanine ; Phenylketonurias/complications ; Phenylketonurias/diagnosis ; Phenylketonurias/epidemiology
Chemical Substances	Phenylalanine (47E5O17Y3R)
Language	English
Publishing date	2021-05-20
Publishing country	England
Document type	Journal Article ; Review
ISSN	2056-676X
ISSN (online)	2056-676X
DOI	10.1038/s41572-021-00267-0
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Article ; Online: A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.

Dijkstra, Allysa M / Evers-van Vliet, Kimber / Heiner-Fokkema, M Rebecca / Bodewes, Frank A J A / Bos, Dennis K / Zsiros, József / van Aerde, Koen J / Koop, Klaas / van Spronsen, Francjan J / Lubout, Charlotte M A

International journal of neonatal screening

2023 Volume 9, Issue 4

Abstract: Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as marker ...

Abstract	Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as marker for TT1 newborn screening (NBS). While SA was long considered to be elevated in every TT1 patient, here we present a recent false-negative SA TT1 screen. A nine-year-old boy presented with HCC in a cirrhotic liver. Additional tests for the underlying cause unexpectedly revealed TT1. Nine years prior, the patient was screened for TT1 via SA NBS with a negative result: SA 1.08 µmol/L, NBS cut-off 1.20 µmol/L. To our knowledge, this report is the first to describe a false-negative result from the TT1 NBS using SA. False-negative TT1 NBS results may be caused by milder TT1 variants with lower SA excretion. Such patients are more likely to be missed in NBS programs and can be asymptomatic for years. Based on our case, we advise TT1 to be considered in patients with otherwise unexplained liver pathology, including fibrosis, cirrhosis and HCC, despite a previous negative TT1 NBS status. Moreover, because the NBS SA concentration of this patient fell below the Dutch cut-off value (1.20 µmol/L at that time), as well as below the range of cut-off values used in other countries (1.29-10 µmol/L), it is likely that false-negative screening results for TT1 may also be occurring internationally. This underscores the need to re-evaluate TT1 SA NBS programs.
Language	English
Publishing date	2023-12-04
Publishing country	Switzerland
Document type	Case Reports
ISSN	2409-515X
ISSN (online)	2409-515X
DOI	10.3390/ijns9040066
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Article ; Online: Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.

Dijkstra, Allysa M / de Blaauw, Pim / van Rijt, Willemijn J / Renting, Hanneke / Maatman, Ronald G H J / van Spronsen, Francjan J / Maase, Rose E / Schielen, Peter C J I / Derks, Terry G J / Heiner-Fokkema, M Rebecca

International journal of neonatal screening

2023 Volume 9, Issue 3

Abstract: Residual heel prick Dried Blood Spots (DBS) are valuable samples for retrospective investigation of inborn metabolic diseases (IMD) and biomarker analyses. Because many metabolites suffer time-dependent decay, we investigated the five-year stability of ... ...

Abstract	Residual heel prick Dried Blood Spots (DBS) are valuable samples for retrospective investigation of inborn metabolic diseases (IMD) and biomarker analyses. Because many metabolites suffer time-dependent decay, we investigated the five-year stability of amino acids (AA) in residual heel prick DBS. In 2019/2020, we analyzed 23 AAs in 2170 residual heel prick DBS from the Dutch neonatal screening program, stored from 2013-2017 (one year at +4 °C and four years at room temperature), using liquid chromatography mass-spectrometry. Stability was assessed by AA changes over the five years. Hydroxyproline could not be measured accurately and was not further assessed. Concentrations of 19 out of the remaining 22 AAs degraded significantly, ranked from most to least stable: aspartate, isoleucine, proline, valine, leucine, tyrosine, alanine, phenylalanine, threonine, citrulline, glutamate, serine, ornithine, glycine, asparagine, lysine, taurine, tryptophan and glutamine. Arginine, histidine and methionine concentrations were below the limit of detection and were likely to have been degraded within the first year of storage. AAs in residual heel prick DBS stored at room temperature are subject to substantial degradation, which may cause incorrect interpretation of test results for retrospective biomarker studies and IMD diagnostics. Therefore, retrospective analysis of heel prick blood should be done in comparison to similarly stored heel prick blood from controls.
Language	English
Publishing date	2023-06-21
Publishing country	Switzerland
Document type	Journal Article
ISSN	2409-515X
ISSN (online)	2409-515X
DOI	10.3390/ijns9030034
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