NDLI: Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0

Content Provider	Springer Nature : BioMed Central
Author	Muntau, Ania C. du Moulin, Marcel Feillet, Francois
Abstract	Background Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone. Accordingly, approval of sapropterin in the European Union was extended in 2015 to include patients aged 0–4 years, bringing the treatment age range in line with that in the USA and providing an additional treatment option for those patients with PKU who are responsive or partially responsive to treatment with sapropterin. Subsequently, European guidelines have been published on the diagnosis and management of patients with PKU. However, testing for PKU can be demanding and requires particular expertise. We have compiled experience-based, real-world guidance in an algorithmic format to complement the published guidelines, with the overall aim to achieve optimized and individualized care for patients with PKU. Results Our guidance covers aspects such as how to perform, monitor and interpret appropriate biochemical measures to achieve effective patient management and desired outcomes, how to perform a tetrahydrobiopterin (BH4) loading test to assess responsiveness in newborns, and how to initiate sapropterin treatment in patients from birth. We also provide our expert opinion on starting pharmacotherapy in patients who were previously managed by diet alone. Conclusions Real-world-based guidance is particularly important in managing therapeutic strategies in newborns with PKU to achieve optimal long-term outcomes and will serve as a complement to the other published guidelines.
Related Links	https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-018-0911-6.pdf
Ending Page	9
Page Count	9
Starting Page	1
File Format	HTM / HTML
ISSN	17501172
DOI	10.1186/s13023-018-0911-6
Journal	Orphanet Journal of Rare Diseases
Issue Number	1
Volume Number	13
Language	English
Publisher	BioMed Central
Publisher Date	2018-09-29
Access Restriction	Open
Subject Keyword	Medicine Public Health Pharmacology Toxicology Human Genetics BH4 Infants Diagnosis Therapy recommendations Sapropterin dihydrochloride Phenylketonuria Medicine/Public Health Pharmacology/Toxicology
Content Type	Text
Resource Type	Article
Subject	Pharmacology (medical) Genetics (clinical)
Journal Impact Factor	3.4/2023
5-Year Journal Impact Factor	3.9/2023

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

The complete European guidelines on phenylketonuria: diagnosis and treatment

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Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

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New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

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