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0333d15f53025fe28cee45509839c7f25e0bd1d4e18b2738d139bfc2371c0ec1  pmc_32456656.pdf

Title:           Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Subject:         Orphanet Journal of Rare Diseases, 2020, doi:10.1186/s13023-020-01379-8
Keywords:        Tetrahydrobiopterin deficiency,BH4,Neurotransmitter,Guanosine triphosphate cyclohydrolase deficiency,6-pyruvoyltetrahydropterin synthase deficiency,"Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency",Dihydropteridine reductase deficiency,Hyperphenylalaninemia,iNTD,Consensus guidelines,SIGN
Author:          Thomas Opladen
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     Item: 
      Title: Abstract
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      Children: 
       Item: 
        Title: Background
        Destination: sectionASec1
       Item: 
        Title: Conclusion
        Destination: sectionASec2
     Item: 
      Title: Background
      Destination: sectionSec1
      Children: 
       Item: 
        Title: Introduction
        Destination: sectionSec2
     Item: 
      Title: Methods
      Destination: sectionSec3
      Children: 
       Item: 
        Title: Composition of the guideline working group and timeline
        Destination: sectionSec4
       Item: 
        Title: Developing topics and key questions
        Destination: sectionSec5
       Item: 
        Title: Systematic literature search
        Destination: sectionSec6
       Item: 
        Title: Grading of evidence and recommendations
        Destination: sectionSec7
       Item: 
        Title: Disclaimer
        Destination: sectionSec8
     Item: 
      Title: Clinical presentation
      Destination: sectionSec9
      Children: 
       Item: 
        Title: General clinical pattern of BH4Ds and differential diagnosis
        Destination: sectionSec10
       Item: 
        Title: Clinical patterns specific of PTPSD, DHPRD, AR-GTPCHD, and SRD
        Destination: sectionSec11
       Item: 
        Title: Clinical patterns specific to PCDD
        Destination: sectionSec12
       Item: 
        Title: Specific clinical pattern of AD-GTPCHD
        Destination: sectionSec13
       Item: 
        Title: Age of onset and age of diagnosis
        Destination: sectionSec14
       Item: 
        Title: Phenotype correlations with genotype or biochemical phenotype
        Destination: sectionSec15
     Item: 
      Title: Diagnosis: laboratory tests
      Destination: sectionSec16
      Children: 
       Item: 
        Title: Key diagnostic test: newborn screening
        Destination: sectionSec17
       Item: 
        Title: Key diagnostic test: blood phenylalanine (plasma/serum)
        Destination: sectionSec18
       Item: 
        Title: Key diagnostic test: Pterins in DBS and urine
        Destination: sectionSec19
       Item: 
        Title: Key diagnostic test: DHPR enzyme activity
        Destination: sectionSec20
       Item: 
        Title: Key diagnostic test: lumbar puncture (HVA, 5-HIAA, neopterin, biopterin and sepiapterin and 5-MTHF in CSF)
        Destination: sectionSec21
       Item: 
        Title: Key diagnostic test: genetic testing
        Destination: sectionSec22
       Item: 
        Title: Concluding statements regarding key diagnostic tests
        Destination: sectionSec23
       Item: 
        Title: Other diagnostic tests: blood prolactin
        Destination: sectionSec24
       Item: 
        Title: Other diagnostic tests: serotonin (whole blood)
        Destination: sectionSec25
       Item: 
        Title: Other diagnostic tests: BH4 loading test
        Destination: sectionSec26
       Item: 
        Title: Other diagnostic tests: Phe loading test
        Destination: sectionSec27
       Item: 
        Title: Other diagnostic tests: L-Dopa loading test
        Destination: sectionSec28
       Item: 
        Title: Other diagnostic test: lumbar puncture (amino acids in CSF)
        Destination: sectionSec29
       Item: 
        Title: Other diagnostic test: lumbar puncture (other metabolites in CSF)
        Destination: sectionSec30
       Item: 
        Title: Key diagnostic test: enzyme activity measurements
        Destination: sectionSec31
       Item: 
        Title: Diagnosis: brain imaging
        Destination: sectionSec32
       Item: 
        Title: Diagnosis: prenatal diagnosis
        Destination: sectionSec33
     Item: 
      Title: Treatment
      Destination: sectionSec34
      Children: 
       Item: 
        Title: First-line treatment
        Destination: sectionSec35
       Item: 
        Title: Dietary treatment
        Destination: sectionSec36
        Children: 
         Item: 
          Title: Drug treatment
          Destination: sectionSec37
       Item: 
        Title: Second-line treatment
        Destination: sectionSec38
        Children: 
         Item: 
          Title: Drug treatment
          Destination: sectionSec39
       Item: 
        Title: Third-line treatment
        Destination: sectionSec40
        Children: 
         Item: 
          Title: Drug treatment
          Destination: sectionSec41
       Item: 
        Title: Acute drug treatments
        Destination: sectionSec45
       Item: 
        Title: Other supportive therapies
        Destination: sectionSec46
       Item: 
        Title: Experimental therapies
        Destination: sectionSec47
       Item: 
        Title: Drugs to avoid in BH4 disorders
        Destination: sectionSec48
       Item: 
        Title: Prenatal treatment
        Destination: sectionSec49
       Item: 
        Title: Follow-up, transition and special situations
        Destination: sectionSec50
        Children: 
         Item: 
          Title: Follow-up visits
          Destination: sectionSec51
         Item: 
          Title: Transition
          Destination: sectionSec52
         Item: 
          Title: Anaesthesia
          Destination: sectionSec53
         Item: 
          Title: Genetic counselling
          Destination: sectionSec54
         Item: 
          Title: Pregnancy
          Destination: sectionSec55
       Item: 
        Title: Patient advocacy groups
        Destination: sectionSec56
     Item: 
      Title: Conclusion
      Destination: sectionSec57
     Item: 
      Title: Supplementary information
      Destination: sectionSec58
     Item: 
      Title: Abbreviations
      Destination: sectionabr1
     Item: 
      Title: Acknowledgements
      Destination: section1
     Item: 
      Title: Authors’ contributions
      Destination: section2
     Item: 
      Title: Funding
      Destination: section3
     Item: 
      Title: Availability of data and materials
      Destination: section4
     Item: 
      Title: Ethics approval and consent to participate
      Destination: sectionFPar14
     Item: 
      Title: Consent for publication
      Destination: sectionFPar15
     Item: 
      Title: Competing interests
      Destination: sectionFPar16
     Item: 
      Title: Author details
      Destination: section5
     Item: 
      Title: References
      Destination: sectionBib1
     Item: 
      Title: Publisher’s Note
      Destination: ArtNote2
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    Title: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
    Author: Thomas Opladen
    Subject: Orphanet Journal of Rare Diseases, 2020, doi:10.1186/s13023-020-01379-8
    Keywords: Tetrahydrobiopterin deficiency,BH4,Neurotransmitter,Guanosine triphosphate cyclohydrolase deficiency,6-pyruvoyltetrahydropterin synthase deficiency,"Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency",Dihydropteridine reductase deficiency,Hyperphenylalaninemia,iNTD,Consensus guidelines,SIGN
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