Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

Zurflüh, Marcel R.; Giovannini, Marcello; Fiori, Laura M.; Fiege, Betina; Gökdemir, Yasemin; Baykal, T.; Kierat, L.; Gärtner, K. H.; Thöny, Beat; Blau, Nenad

doi:10.1016/j.ymgme.2005.09.011

Cited by 33 publications

(34 citation statements)

References 8 publications

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“…┌─┐ indicates sensitivity of combined parameter interpretation. Neo = neopterin; Bio=biopterin; Pte = pterin; Bio + Pte = biopterin + pterin; Hb = hemoglobin; %Bio = 100*Bio/ (Neo + Bio) correlation between the pterins pattern in DBS and urine for 70 patients with HPA (Zurflüh et al 2005). The aim of our study was to re-evaluate the usefulness of this method in a large population of patients with HPA over longer period of time and to establish reference values for both BH 4 -deficient and BH 4 -non-deficient HPA patients.…”

Section: Discussionmentioning

confidence: 99%

“…So far only values for neopterin and biopterin of four patients with BH 4 deficiency investigated by dried blood spots were published (Zurflüh et al 2005). In our study 27 patients with PTPS deficiency, seven patients with GTPCH deficiency and 30 patients with DHPR deficiency were diagnosed.…”

Section: Discussionmentioning

confidence: 99%

“…Several PTPSdeficient presented normal pterin concentrations (data not shown). Thus, the calculation of biopterin + pterin may result in too high values and in contrast to the previous publication (Zurflüh et al 2005) should be not used. kept during 14 days either at day-light or in dark.…”

Section: Pterins Pattern In Bh 4 Deficienciesmentioning

confidence: 93%

“…In parallel to the age groups for pterin excretion in urine, we distinguished two age groups (<10 years and >10 years). Since pterin is a degradation product of BH 4 , a sum of biopterin and pterin were initially used for the differential diagnosis (Zurflüh et al 2005). Neopterin and biopterin concentrations in DBS were found to be higher in children younger than 10 years ( Table 1).…”

Section: Age-related Reference Valuesmentioning

confidence: 99%

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Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

Opladen

Seda

Rassi

et al. 2011

J of Inher Metab Disea

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In every newborn with even mild hyperphenylalaninemia (HPA) tetrahydrobiopterin (BH 4 ) deficiencies need to be excluded as soon as possible. Differential diagnosis is most commonly performed by analysis of urinary neopterin and biopterin. In 2005 a new method for the measurement of neopterin, biopterin and other pterins in dried blood spot (DBS) on filter paper was introduced. In order to evaluate the usefulness of this method as a standard tool for differential diagnosis of HPAs we analyzed neopterin, biopterin, pterin and dihydropteridine reductase activity in DBS from 362 patients with HPA over the period of five years. Age-dependent reference values were established for the HPA population. Sixty-four patients with BH 4 deficiency (27 patients with 6-pyruvoyl-tetrahydropterin synthase deficiency, seven with GTP cyclohydrolase I deficiency, and 30 with dihydropteridine reductase) were identified. Reference values for neopterin and biopterin in DBS were calculated for each of the variants. 6-pyruvoyl-tetrahydropterin synthase and GTP cyclohydrolase I deficiency can be diagnosed by neopterin and biopterin analysis alone, while for diagnosis of dihydropteridine reductase deficiency additional determination of enzyme activity from the same DBS is essential. Regarding test sensitivity, the interpretation of neopterin and biopterin concentration per hemoglobin is more valid than the interpretation of neopterin and biopterin per liter. Percentage of biopterin, of the sum of neopterin and biopterin should always be calculated. In addition, determination of hemoglobin concentration is essential as a measure for efficient extraction of neopterin and biopterin. Although the measurement of neopterin and biopterin in urine is more sensitive due to the higher concentrations present, our data prove the usefulness of their measurement from DBS for the routine diagnosis of BH 4 deficiencies.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Pterins Pattern In Bh 4 Deficienciesmentioning

confidence: 93%

Section: Age-related Reference Valuesmentioning

confidence: 99%

See 2 more Smart Citations

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

Opladen

Seda

Rassi

et al. 2011

J of Inher Metab Disea

Self Cite

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“…The pharmacokinetics of BH 4 has been reported to be highly variable between patients and also in individuals at different ages (Zurflü h et al 2005). BH 4 pharmacokinetics was evaluated in patients with mild, moderate and classical PKU as part of a study evaluating the response to three different dosages of BH 4 .…”

mentioning

confidence: 99%

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria

Gramer

Garbade

Blau

2008

J of Inher Metab Disea

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The utility of dried blood spots for proteomic studies: Looking forward to looking back

Ignjatović

Pitt

Monagle

et al. 2014

Proteomics Clinical Apps

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The possibility to detect biomarkers of adult disease in early life and particularly in newborns holds enormous promise for early disease detection and prevention. Early detection of disease or potential for future disease would allow for prevention or amelioration of disease before overt symptoms develop, by lifestyle modifications, appropriate medication and monitoring. It is now increasingly important to develop the technologies that allow dried blood spots (DBS) to be utilized for protein-based studies. The use of DBS in proteome wide association studies (PWAS) may in turn allow for detection of major diseases of adulthood at the earliest possible time. This review focuses on the utility of DBS in proteomics, the main challenges, as well as the latest approaches for overcoming those, facilitating the use of DBS for detection of major diseases of adulthood at the earliest possible time.

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Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

Cited by 33 publications

References 8 publications

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria

The utility of dried blood spots for proteomic studies: Looking forward to looking back

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