| Title |
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency
|
|---|---|
| Published in |
European Journal of Pediatrics, May 2017
|
| DOI | 10.1007/s00431-017-2932-x |
| Pubmed ID | |
| Authors |
Francesca Nardecchia, Flavia Chiarotti, Claudia Carducci, Silvia Santagata, Giulia Valentini, Antonio Angeloni, Nenad Blau, Vincenzo Leuzzi |
| Abstract |
The tetrahydrobiopterin (BH4) cofactor is essential for the activity of various enzymes, including phenylalanine (Phe) hydroxylase. In phenylketonuria (PKU) patients, who are chronically exposed to high Phe levels, high urinary excretion of BH4 metabolites neopterin and biopterin is observed. The aim of this longitudinal study was to investigate consistence and variability of the urinary excretion of pterins (neopterin and biopterin) in PKU patients in relation to age and concomitant blood Phe and tyrosine levels. The study was based on the result of 274 pterin examinations (3-13 exams per subject) performed in 47 PKU patients (aged 6 days to 37 years). Multivariate analysis showed that urinary biopterin and neopterin excretion was affected by age and concomitant blood Phe concentration. The influence of blood Phe on both biopterin and neopterin levels was greater in patients younger than 4 months. Later on, interindividual variability was higher than intraindividual variability for both biopterin and neopterin. Common metabolic (blood Phe levels) and individual (age) factors implicated in the assessment of PKU outcome account only marginally and transiently for the variability of neopterin and biopterin excretion in PKU patients. Other unknown homeostatic factors may probably affect the individual response to chronically elevated Phe levels. What is Known: • In PKU patients, a high urinary excretion of biopterin and neopterin is found. • Biopterin and neopterin excretion is influenced by age and phenylalanine levels. W hat is New: • Blood phenylalanine concentration is the major determinant on pterin excretion in PKU patients in the first months of life. • In older PKU patients, the influence of phenylalanine on pterin excretion is less prominent. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 25% |
| Netherlands | 1 | 25% |
| Unknown | 2 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 2 | 50% |
| Scientists | 1 | 25% |
| Members of the public | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | 8% |
| Unknown | 12 | 92% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 4 | 31% |
| Student > Ph. D. Student | 2 | 15% |
| Researcher | 2 | 15% |
| Student > Master | 1 | 8% |
| Student > Bachelor | 1 | 8% |
| Other | 0 | 0% |
| Unknown | 3 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 23% |
| Chemistry | 3 | 23% |
| Immunology and Microbiology | 1 | 8% |
| Biochemistry, Genetics and Molecular Biology | 1 | 8% |
| Neuroscience | 1 | 8% |
| Other | 1 | 8% |
| Unknown | 3 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 June 2017.
All research outputs
#14,349,470
of 22,977,819 outputs
Outputs from European Journal of Pediatrics
#2,565
of 3,741 outputs
Outputs of similar age
#175,337
of 313,673 outputs
Outputs of similar age from European Journal of Pediatrics
#38
of 57 outputs
Altmetric has tracked 22,977,819 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,741 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.7. This one is in the 28th percentile – i.e., 28% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 313,673 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 57 others from the same source and published within six weeks on either side of this one. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.