Phenylketonuria (PKU): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Phenylketonuria (PKU): clinical features. PKU is a hereditary in-born error of metabolism. Fully referenced neurology checklist.
Genetics and pathology
- PKU is a hereditary in-born error of metabolism
- The transmission is autosomal recessive
- It is caused by mutations in the phenylalanine hydroxylase gene
- Phenylalanine hydroxylase converts phenylalanine to tyrosine
- The enzyme deficiency results in tissue accumulation of phenylalanine
Movement disorders
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Other neurological features
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Psychiatric features
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Systemic features
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Differential diagnosis
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References
- Mainka T, Fischer JF, Huebl J, et al. The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria. Parkinsonism Relat Disord 2021; 89:167-175.
- Jaulent P, Charriere S, Feillet F, Douillard C, Fouilhoux A, Thobois S. Neurological manifestations in adults with phenylketonuria: new cases and review of the literature. J Neurol 2020; 267:531-542.
- Bilder DA, Kobori JA, Cohen-Pfeffer JL, Johnson EM, Jurecki ER, Grant ML. Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study. Mol Genet Metab 2017; 121:1-8.
- Burlina AP, Lachmann RH, Manara R, et al. The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: a systematic review. J Inherit Metab Dis 2019; 42:209-219.
- Burton BK, Jones KB, Cederbaum S, et al. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria. Mol Genet Metab 2018; 125:228-234.
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