Phenylketonuria Associated Early Onset Parkinsonism: A Case of Rapid Progression Following Dietary Nonadherence
pdf (English)

საკვანძო სიტყვები

Phenylketonuria
Parkinsonism
Dopamine
Tremors
Cognitive impairment

როგორ უნდა ციტირება

Peiris, A., Weerasinghe, N., Tchikadze, D. N., Janelidze, M., & Khatiashvili, I. (2025). Phenylketonuria Associated Early Onset Parkinsonism: A Case of Rapid Progression Following Dietary Nonadherence . ახალგაზრდა მკვლევარები, 3(2), 42–46. https://doi.org/10.52340/jr.2025.03.02.07

ანოტაცია

Introduction: Early-onset Parkinsonism is a rare complication of phenylketonuria (PKU), a metabolic disorder marked by elevated phenylalanine and reduced tyrosine levels. This biochemical imbalance leads to dopamine deficiency in the basal ganglia, contributing to

https://doi.org/10.52340/jr.2025.03.02.07
pdf (English)

წყაროები

Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376(9750):1417– 1427. doi:10.1016/S0140-6736(10)60961-0.

Diamond A, Prevor MB, Callender G, Druin DP. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Neurotoxicol Teratol. 1997;19(5):447–458. doi:10.1016/S0892-0362(97)00097-7.

van Vliet D, van Wegberg AMJ, Ahring KK, Bélanger-Quintana A, Blau N, Bosch AM, et al. Can adult patients with phenylketonuria adhere to diet? A systematic review. Mol Genet Metab. 2018;124(1):1–10. doi:10.1016/j.ymgme.2018.02.009.

Jaulent, P. et al. (2019) 'Neurological manifestations in adults with phenylketonuria:

New cases and review of the literature', Journal of Neurology, 267(2), pp. 531–542.

doi:10.1007/s00415-019-09608-2.

Phenylketonuria’ (2017) Progressive Brain Disorders in Childhood, pp. 99–102. doi:10.1017/9781107323704.028.

Velema M, Boot E, Engelen M, Hollak C. Parkinsonism in phenylketonuria: a consequence of dopamine depletion? JIMD Reports. 2015;20:35–38. doi:10.1007/8904_2014_386.

Downloads

Download data is not yet available.