Journal article
Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey
Journal of Inherited Metabolic Disease, Vol.33(Supplement 3), pp.417-420
2010
Abstract
Investigations into the biochemical markers associated with executive function (EF) impairment in children with early and continuously treated phenylketonuria (ECT-PKU) remain largely phenylalanine-only focused, despite experimental data showing that a high phenylalanine:tyrosine (phe:tyr) ratio is more strongly associated with EF deficit than phe alone. A high phe:tyr ratio is hypothesized to lead to a reduction in dopamine synthesis within the brain, which in turn results in the development of EF impairment. This paper provides a snapshot of current practice in the monitoring and/or treatment of tyrosine levels in children with PKU, across 12 countries from Australasia, North America and Europe. Tyrosine monitoring in this population has increased over the last 5 years, with over 80% of clinics surveyed reporting routine monitoring of tyrosine levels in infancy alongside phe levels. Twenty-five percent of clinics surveyed reported actively treating/managing tyrosine levels (with supplemental tyrosine above that contained in PKU formulas) to ensure tyrosine levels remain within normal ranges. Anecdotally, supplemental tyrosine has been reported to ameliorate symptoms of both attention deficit hyperactivity disorder and depression in this population. EF assessment of children with ECT-PKU was likewise highly variable, with 50% of clinics surveyed reporting routine assessments of intellectual function. However when function was assessed, test instruments chosen tended towards global measures of IQ prior to school entry, rather than specific assessment of EF development. Further investigation of the role of tyrosine and its relationship with phe and EF development is needed to establish whether routine tyrosine monitoring and increased supplementation is recommended.
Details
- Title
- Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey
- Authors
- Rachael Sharman (Author) - Queensland University of TechnologyK A Sullivan (Author) - Queensland University of TechnologyRoss Young (Author) - Queensland University of TechnologyJ J McGill (Author) - Royal Children's Hospital
- Publication details
- Journal of Inherited Metabolic Disease, Vol.33(Supplement 3), pp.417-420
- Publisher
- Springer Netherlands
- Date published
- 2010
- DOI
- 10.1007/s10545-010-9211-6
- ISSN
- 0141-8955
- Organisation Unit
- School of Social Sciences - Legacy; University of the Sunshine Coast, Queensland; Office of the Deputy Vice-Chancellor (Research and Innovation); School of Health - Psychology; School of Health and Behavioural Sciences - Legacy
- Language
- English
- Record Identifier
- 99449898102621
- Output Type
- Journal article
Metrics
5 File views/ downloads
454 Record Views
InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Collaboration types
- Domestic collaboration
- Web Of Science research areas
- Endocrinology & Metabolism
- Genetics & Heredity
- Medicine, Research & Experimental
UN Sustainable Development Goals (SDGs)
This output has contributed to the advancement of the following goals:
Source: InCites