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Published on: October 9, 2011
[Phenylketonuria (PKU) in Iceland]
Karl Erlingur Oddason1, Lilja Eiriksdóttir, Leifur Franzson
1Læknadeild Háskóla Íslands.
Laeknabladid
|June 11, 2011
Summary
Phenylketonuria (PKU) screening in Iceland since 1972 has ensured normal intelligence in diagnosed patients. Tetrahydrobiopterin (BH4) therapy shows promise for some individuals with PKU.
Area of Science:
- Metabolic genetics and newborn screening.
- Pharmacogenomics of tetrahydrobiopterin (BH4) therapy.
Context:
- Phenylketonuria (PKU) is an inherited metabolic disorder caused by phenylalanine hydroxylase (PAH) gene mutations.
- Neonatal screening for PKU in Iceland began in 1972, with current therapies including diet and BH4.
- Understanding PKU epidemiology and treatment efficacy in Iceland is crucial.
Purpose:
- To collect and analyze data on PKU patients in Iceland.
- To evaluate the effectiveness of PKU screening and therapy, including BH4 treatment.
- To investigate PAH mutation types and their response to BH4.
Summary:
- PKU incidence in Iceland (1972-2008) is 1/8400, with classic PKU being most common.
- Screening has led to normal intelligence in diagnosed patients, with earlier therapy initiation and lower serum phenylalanine levels over time.
- Twelve PAH mutations identified, including a novel Icelandic mutation; BH4 responsiveness varies among patients.
Impact:
- PKU screening in Iceland is effective, ensuring good patient health and adequate therapy compliance.
- BH4 therapy presents a viable alternative treatment option for select PKU patients in Iceland.
- This study provides valuable insights into PKU management and genetic diversity in a specific population.
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