P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports
Phenylketonuria (PKU) is a rare genetic disorder causing a deficiency in the enzyme phenylalanine hydroxylase (PAH). If untreated, PKU patients experience an excess of phenylalanine in the blood, resulting in intellectual disability and other neurological consequences. Criteria for diagnosing PKU include plasma phenylalanine concentration consistently greater than 120 μmol/L and genetic confirmation of disease-causing variants in the PAH gene.
Authors
- Amina Kurtović-Kozarić (ORCID: https://orcid.org/0000-0002-6063-7260)
- Anna K. McGill
- Elizabeth Wiley (ORCID: https://orcid.org/0000-0001-8832-3987)
- Kathryn Curry
- Jane Beckwell
- Jeffrey Bissonnette (ORCID: https://orcid.org/0000-0002-6778-2313)
- Mark J. Kiel (ORCID: https://orcid.org/0000-0003-0931-1983)
- Ena Toman
- Pedro Romero (ORCID: https://orcid.org/0000-0002-9688-2882)
- Betty Mathias
- Melida Mahinic
- Ana Gutalj
- Rasema Bihorac Hrelja
- Mirna Racic
- Sabina Alagic
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102302
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00