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Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations
- Source :
- Nutrients, Volume 13, Issue 9, Nutrients, Vol 13, Iss 3118, p 3118 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI, 2021.
-
Abstract
- Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our study aimed to describe the metabolic control of patients with phenylketonuria (PKU) comparing three different treatment recommendations (European guidelines/US guidelines/Portuguese consensus). This was a retrospective, observational, single centre study in patients with PKU collecting data on blood Phe levels from 2017. Nutritional intake data and sapropterin (BH4) prescription were collected at the last appointment of 2017. The final sample studied included 87 patients (48% females) [13 hyperphenylalaninemia<br />47 mild PKU<br />27 classical PKU] with a median age of 18 y (range: 1–36 y). The median number of blood Phe measurements for patients was 21 (range: 6–89). In patients aged &lt<br />12 y, the median blood Phe level was 300 μmol/L (range 168–480) and 474 μmol/L (range 156–1194) for patients ≥ 12 y. Overall, a median of 83% of blood Phe levels were within the European PKU guidelines target range. In patients aged ≥ 12 years, there was a higher median % of blood Phe levels within the European PKU guidelines target range (≥12 y: 84% vs. &lt<br />12 y: 56%). In children &lt<br />12 y with classical PKU (n = 2), only 34% of blood Phe levels were within target range for all 3 guidelines and 49% with mild PKU (n = 11). Girls had better control than boys (89% vs. 66% median Phe levels within European Guidelines). Although it is clear that 50% or more patients were unable to achieve acceptable metabolic control on current treatment options, a globally agreed upper Phe target associated with optimal outcomes for age groups is necessary. More studies need to examine how clinics with dissimilar resources, different therapeutic Phe targets and frequency of monitoring relate to metabolic control.
- Subjects :
- Adult
Male
Pediatrics
medicine.medical_specialty
Adolescent
phenylalanine
Phenylalanine
phenylketonuria
Blood phenylalanine
Guidelines
Target range
Article
Metabolic control
Eating
Young Adult
Hyperphenylalaninemia
Age groups
Reference Values
Phenylketonurias
medicine
Diet, Protein-Restricted
Phenylketonuria
Humans
TX341-641
guidelines
Child
Retrospective Studies
Nutrition and Dietetics
Portugal
Nutrition. Foods and food supply
business.industry
Treatment options
Infant
metabolic control
Reference Standards
medicine.disease
Biopterin
Single centre
Treatment Outcome
Metabolic control analysis
Child, Preschool
Practice Guidelines as Topic
Observational study
Female
business
Biomarkers
Food Science
Subjects
Details
- Language :
- English
- ISSN :
- 20726643
- Volume :
- 13
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Nutrients
- Accession number :
- edsair.doi.dedup.....95bef754e0ce35cc60bb7ab8430e3902