Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper

Blau, Nenad; Kierat, L.; Heizmann, Claus W.; Endres, W.; Giudici, Tullio A.; Wang, M.

doi:10.1007/bf02435988

Cited by 15 publications

(11 citation statements)

References 9 publications

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“…In 1992, a simplified oxidation procedure using manganese dioxide (M n O 2 ) under acidic conditions was established to diminish the pre-analysis preparation time for CSF analysis [25,26]. As the oxidation products N and B obtained under acidic conditions are sufficient to establish the correct diagnosis of neurotransmitter disorders (Table 1) some authors proposed a single-step oxidation of NH2, BH4 and BH2 into N and B (BH4 + BH2), respectively, by using manganese dioxide under acidic conditions [25,26].…”

Section: Hplc-fd Methodsmentioning

confidence: 99%

“…As the oxidation products N and B obtained under acidic conditions are sufficient to establish the correct diagnosis of neurotransmitter disorders (Table 1) some authors proposed a single-step oxidation of NH2, BH4 and BH2 into N and B (BH4 + BH2), respectively, by using manganese dioxide under acidic conditions [25,26]. Samples (200 μL) were mixed with (1 mg of M n O 2 ) and 20 μL of 1 M HCl.…”

Section: Hplc-fd Methodsmentioning

confidence: 99%

“…Although faster than the iodine oxidation method, this method obviously does not allow distinguishing BH4 from BH2. Besides, more recently, some authors compared the two proposed chemical oxidation procedures iodine vs. M n O 2 , and they concluded that the oxidation with iodine results in the most accurate determination of N and B in CSF [25]. However, it is now well established that chemical oxidation methods are to underestimate amounts of reduced forms of N and B [9,15].…”

Section: Hplc-fd Methodsmentioning

confidence: 99%

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Pterin determination in cerebrospinal fluid: state of the art

Guibal

Maître

et al. 2017

Pteridines

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AbstractThe analysis of pterins in the cerebrospinal fluid (CSF) is mandatory for the etiologic diagnosis of inborn errors of dopamine and serotonin metabolism. The success of the available therapeutic strategies for preventing the ongoing brain dysfunction is tightly dependent of the early diagnosis of these neurotransmitter disorders. Previous methods of pterins determination in the CSF have in common at least one reversed phase HPLC step coupled to electrochemical or fluorescence detection (FD). They differ in the oxidation procedure of the reduced forms of pterins into their oxidized fluorescent counterparts. Most of the methods using the FD include at least one offline chemical oxidation procedure and cannot allow the direct quantification of tetrahydrobiopterin (BH4). A recent method proposed a single step simultaneous quantification of all forms of pterins including BH4 by HPLC coupled to FD after post-column coulometric oxidation. Nowadays, recent advances in mass spectrometry (MS), notably in term of sensitivity, allow the direct unambiguous determination of all forms of pterins in the CSF by LC-MS/MS.

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Section: Hplc-fd Methodsmentioning

confidence: 99%

Section: Hplc-fd Methodsmentioning

confidence: 99%

Section: Hplc-fd Methodsmentioning

confidence: 99%

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Pterin determination in cerebrospinal fluid: state of the art

Guibal

Maître

et al. 2017

Pteridines

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“…Pterins (BP and NP) were analysed by reverse phase HPLC with fluorescence detection (Waters, MA, USA), following a previously reported procedure (Blau et al, 1992). Briefly, Table 1 Within-run and between-run imprecision data and analytical range of BA and pterins measured by HPLC with electrochemical and fluorescence detection Data representing coefficients of variation are expressed as percentages (average concentration in nmol/l).…”

Section: Chromatographic Conditionsmentioning

confidence: 99%

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins

Ormazábal

García‐Cazorla

Fernández

et al. 2005

Journal of Neuroscience Methods

106

112

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“…11,46,[81][82][83] Random urine specimens dried on filter paper can also be used, with the advantage that they can be mailed unfrozen. [84][85][86] Samples are oxidized to convert BH 4 , q-BH 2 , and BH 2 to total biopterin, and dihydroneopterin to neopterin. Separation by HPLC then results in pterin profiles characteristic for each form of HPA (Fig.…”

Section: Urinary Pteridine Profilementioning

confidence: 99%

Dihydropteridine reductase deficiency in man: From biology to treatment

Ponzone

Spada

Ferraris

et al. 2003

Medicinal Research Reviews

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In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH(4)) deficiency, leading to hyperphenylalaninemia (HPA) and impaired biogenic amine deficiency. So far, more than 150 patients scattered worldwide have been reported and major progresses have been made in the understanding of physiopathology, screening, diagnosis, treatment, and molecular genetics of this inherited disease. Present knowledge on different aspects of DHPR deficiency, largely derived from authors' personal experience, is traced in this article.

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Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper

Cited by 15 publications

References 9 publications

Pterin determination in cerebrospinal fluid: state of the art

Pterin determination in cerebrospinal fluid: state of the art

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins

Dihydropteridine reductase deficiency in man: From biology to treatment

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