Phenylketonuria (PKU): investigations
Evidence-based neurology checklist on phenylketonuria (pku): investigations: Baseline investigations Full plasma amino acid profile Genotyping Newborn screening Dexa scan Magnetic resonance imaging (MRI): see below Magnetic resonance imaging (MRI) brain: features
Baseline investigations
- Full plasma amino acid profile
- Genotyping
- Newborn screening
- Dexa scan
- Magnetic resonance imaging (MRI): see below
Magnetic resonance imaging (MRI) brain: features
References
- Burton BK, Hermida Á, Bélanger-Quintana A, et al. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Mol Genet Metab 2022; 137:114-126.
- Wang MW, Wu CJ, Zhang ZQ. Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review. J Neurol 2023; 270:4060-4079.
- Palaiodimou L, Zompola C, Lachanis S, et al. True restriction in diffusion-weighted imaging in a mistreated patient with phenylketonuria. Neurologist 2020; 26:20-21.
- Kono K, Okano Y, Nakayama K, et al. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 2005; 236:630-636.
- Muri R, Maissen-Abgottspon S, Rummel C, et al. Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria. J Inherit Metab Dis 2022; 45:1082-1093.
