Phenylketonuria (PKU): monitoring
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Phenylketonuria (PKU): monitoring. Allergy: eczema, rhinitis, Micronutrients: B12, folate, zinc, vitamin D. Fully referenced neurology checklist.
12-monthly monitoring
- Allergy: eczema, rhinitis
- Micronutrients: B12, folate, zinc, vitamin D
- Lipid panel
- Full plasma amino acid profile
6-monthly monitoring
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Monthly monitoring
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Phenylalanine monitoring in special circumstances
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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.
- Burlina A, Biasucci G, Carbone MT, et al. Italian national consensus statement on management and pharmacological treatment of phenylketonuria. Orphanet J Rare Dis 2021; 16:476.
- 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.
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