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Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

The Original Article was published on 26 May 2020

Correction to: Orphanet Journal of Rare Diseases 15, 126 (2020)

Following the original article's publication [1] the authors asked for the correction of Fig. 2, since the names of the disease genes [GCH1 and PCBD1] in the figure published did not match the listed diseases [AR-GTPCHD and PCDD]. The correct Fig. 2 is shown below:

Fig. 2
figure 1

Diagnostic flowchart for differential diagnosis of BH4Ds with and without HPA. 1Consider genetic HPA workup depending on availability and financial resources. The gene panel should include the QDPR, GCH1, PTS PCBD1, SPR genes as well as DNAJC12. For GCH1, consider MLPA if Sanger sequencing is negative. 2The analysis in urine is more sensitive than in DBS and pathological patterns suggestive for PCDD and SRD can only be detected in urine but not in DBS. 3Primapterin measurement in urine is only elevated in PCDD. 4Aminoacids in CSF are not required for diagnosis of BH4Ds. 5CSF analysis should always include standard measurements (cell count, proteins, glucose and lactate). 6Recommendation against measurements of HVA, 5-HIAA, 5-MTHF, and pterins in CSF in the case of PCDD. (*) A diagnostic L-Dopa trial should be limited to children with symptoms suggestive of dopa-responsive dystonia or to situations where biochemical and genetic diagnostic tools are not available. If the diagnostic L-Dopa trial is positive but the results of CSF biochemical and/or molecular genetic testing are not compatible with AD-GTPCHD or SRD, further aetiologies for dopa responsive dystonia should be considered (e.g. juvenile parkinsonism (PARK2gene)). (**) Can be considered if available. See text for more detailed information. Abbreviations: 5-HIAA, 5-hydroxyindoleacetic acid; 5-MTHF, 5-methyltetrahydrofolate; AA: amino acids; AD−/AR- GTPCHD: guanosine triphosphate cyclohydrolase I deficiency; BH4, tetrahydrobiopterin; Bio: biopterin; CSF: cerebrospinal fluid; DBS: dry blood spot; DHPR: q-dihydropteridine reductase; DHPRD, dihydropteridine reductase deficiency; HVA, homovanillic acid; MRI, magnetic resonance imaging; N: normal; NBS: newborn screening; Neo: neopterin; NR: not reported; PAH: phenylalanine hydroxylase; Phe: phenylalanine; PKU: phenylketonuria; Prim: primapterin; PTPSD, 6-pyruvoyltetrahydropterin synthase deficiency; SRD: sepiapterin reductase deficiency; Tyr: tyrosine; u: urine; (+) = positive effect; (−) = no or no clear effect

In the context of the manuscript correction and in order to match the text content, the words "apart from DHPRD" should be removed from the second row and second column of Table 4, as shown below:

Table 4 Recommended drugs and doses for BH4 disorders


  1. Opladen, et al. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet Journal of Rare Diseases. 2020;15:126.

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Correspondence to Thomas Opladen or Jan Kulhánek.

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Opladen, T., López-Laso, E., Cortès-Saladelafont, E. et al. Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet J Rare Dis 15, 202 (2020).

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