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Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses

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Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses. / Gramer, Gwendolyn; Förl, Birgit; Springer, Christina; Weimer, Petra; Haege, Gisela; Mackensen, Friederike; Müller, Edith; Völcker, Hans Eberhard; Hoffmann, Georg Friedrich; Lindner, Martin; Krastel, Hermann; Burgard, Peter.

In: MOL GENET METAB, Vol. 108, No. 1, 01.2013, p. 1-7.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Gramer, G, Förl, B, Springer, C, Weimer, P, Haege, G, Mackensen, F, Müller, E, Völcker, HE, Hoffmann, GF, Lindner, M, Krastel, H & Burgard, P 2013, 'Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses', MOL GENET METAB, vol. 108, no. 1, pp. 1-7. https://doi.org/10.1016/j.ymgme.2012.10.021

APA

Gramer, G., Förl, B., Springer, C., Weimer, P., Haege, G., Mackensen, F., Müller, E., Völcker, H. E., Hoffmann, G. F., Lindner, M., Krastel, H., & Burgard, P. (2013). Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses. MOL GENET METAB, 108(1), 1-7. https://doi.org/10.1016/j.ymgme.2012.10.021

Vancouver

Gramer G, Förl B, Springer C, Weimer P, Haege G, Mackensen F et al. Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses. MOL GENET METAB. 2013 Jan;108(1):1-7. https://doi.org/10.1016/j.ymgme.2012.10.021

Bibtex

@article{82a6c731fb21423e8f958cd5fc314497,
title = "Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses",
abstract = "BACKGROUND: In phenylketonuria presymptomatic treatment following newborn screening prevents severe mental and physical impairment. The reasons for subtle impairments of cerebral functions despite early treatment remain unclear. We assessed a broad spectrum of visual functions in early-treated patients with phenylketonuria and evaluated two hypotheses-the dopamine and the long-chain polyunsaturated fatty acids (LCPUFAs) depletion hypotheses.METHODS: Contrast sensitivity, colour vision, electroretinography, frequency doubling technology campimetry (FDT), and their relation with blood phenylalanine and docosahexaenoic acid levels were assessed in 36 patients with phenylketonuria and 18 age-matched healthy controls.RESULTS: Contrast sensitivity was significantly lower and total error scores in colour vision significantly higher in patients than controls. Electroretinography results differed significantly between patients and controls. We found a trend for the effect of phenylalanine-levels on contrast sensitivity and a significant effect on colour vision/FDT results. Docosahexaenoic acid levels in erythrocytes were not associated with visual functions.CONCLUSION: This is the first evaluation of visual functions in phenylketonuria using a comprehensive ophthalmological test battery. We found no evidence supporting the long-chain polyunsaturated fatty acids depletion hypothesis. However, the effect of phenylalanine-levels on visual functions suggests that imbalance between phenylalanine and tyrosine may affect retinal dopamine levels in phenylketonuria. This is supported by the similar patterns of visual functions in patients with phenylketonuria observed in our study and patients with Parkinson's disease.",
keywords = "Adolescent, Adult, Case-Control Studies, Color Vision, Contrast Sensitivity, Dopamine/metabolism, Electroretinography, Fatty Acids, Unsaturated/metabolism, Female, Humans, Male, Phenylketonurias/metabolism, Vision, Ocular, Young Adult",
author = "Gwendolyn Gramer and Birgit F{\"o}rl and Christina Springer and Petra Weimer and Gisela Haege and Friederike Mackensen and Edith M{\"u}ller and V{\"o}lcker, {Hans Eberhard} and Hoffmann, {Georg Friedrich} and Martin Lindner and Hermann Krastel and Peter Burgard",
note = "Copyright {\textcopyright} 2012 Elsevier Inc. All rights reserved.",
year = "2013",
month = jan,
doi = "10.1016/j.ymgme.2012.10.021",
language = "English",
volume = "108",
pages = "1--7",
journal = "MOL GENET METAB",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses

AU - Gramer, Gwendolyn

AU - Förl, Birgit

AU - Springer, Christina

AU - Weimer, Petra

AU - Haege, Gisela

AU - Mackensen, Friederike

AU - Müller, Edith

AU - Völcker, Hans Eberhard

AU - Hoffmann, Georg Friedrich

AU - Lindner, Martin

AU - Krastel, Hermann

AU - Burgard, Peter

N1 - Copyright © 2012 Elsevier Inc. All rights reserved.

PY - 2013/1

Y1 - 2013/1

N2 - BACKGROUND: In phenylketonuria presymptomatic treatment following newborn screening prevents severe mental and physical impairment. The reasons for subtle impairments of cerebral functions despite early treatment remain unclear. We assessed a broad spectrum of visual functions in early-treated patients with phenylketonuria and evaluated two hypotheses-the dopamine and the long-chain polyunsaturated fatty acids (LCPUFAs) depletion hypotheses.METHODS: Contrast sensitivity, colour vision, electroretinography, frequency doubling technology campimetry (FDT), and their relation with blood phenylalanine and docosahexaenoic acid levels were assessed in 36 patients with phenylketonuria and 18 age-matched healthy controls.RESULTS: Contrast sensitivity was significantly lower and total error scores in colour vision significantly higher in patients than controls. Electroretinography results differed significantly between patients and controls. We found a trend for the effect of phenylalanine-levels on contrast sensitivity and a significant effect on colour vision/FDT results. Docosahexaenoic acid levels in erythrocytes were not associated with visual functions.CONCLUSION: This is the first evaluation of visual functions in phenylketonuria using a comprehensive ophthalmological test battery. We found no evidence supporting the long-chain polyunsaturated fatty acids depletion hypothesis. However, the effect of phenylalanine-levels on visual functions suggests that imbalance between phenylalanine and tyrosine may affect retinal dopamine levels in phenylketonuria. This is supported by the similar patterns of visual functions in patients with phenylketonuria observed in our study and patients with Parkinson's disease.

AB - BACKGROUND: In phenylketonuria presymptomatic treatment following newborn screening prevents severe mental and physical impairment. The reasons for subtle impairments of cerebral functions despite early treatment remain unclear. We assessed a broad spectrum of visual functions in early-treated patients with phenylketonuria and evaluated two hypotheses-the dopamine and the long-chain polyunsaturated fatty acids (LCPUFAs) depletion hypotheses.METHODS: Contrast sensitivity, colour vision, electroretinography, frequency doubling technology campimetry (FDT), and their relation with blood phenylalanine and docosahexaenoic acid levels were assessed in 36 patients with phenylketonuria and 18 age-matched healthy controls.RESULTS: Contrast sensitivity was significantly lower and total error scores in colour vision significantly higher in patients than controls. Electroretinography results differed significantly between patients and controls. We found a trend for the effect of phenylalanine-levels on contrast sensitivity and a significant effect on colour vision/FDT results. Docosahexaenoic acid levels in erythrocytes were not associated with visual functions.CONCLUSION: This is the first evaluation of visual functions in phenylketonuria using a comprehensive ophthalmological test battery. We found no evidence supporting the long-chain polyunsaturated fatty acids depletion hypothesis. However, the effect of phenylalanine-levels on visual functions suggests that imbalance between phenylalanine and tyrosine may affect retinal dopamine levels in phenylketonuria. This is supported by the similar patterns of visual functions in patients with phenylketonuria observed in our study and patients with Parkinson's disease.

KW - Adolescent

KW - Adult

KW - Case-Control Studies

KW - Color Vision

KW - Contrast Sensitivity

KW - Dopamine/metabolism

KW - Electroretinography

KW - Fatty Acids, Unsaturated/metabolism

KW - Female

KW - Humans

KW - Male

KW - Phenylketonurias/metabolism

KW - Vision, Ocular

KW - Young Adult

U2 - 10.1016/j.ymgme.2012.10.021

DO - 10.1016/j.ymgme.2012.10.021

M3 - SCORING: Journal article

C2 - 23219290

VL - 108

SP - 1

EP - 7

JO - MOL GENET METAB

JF - MOL GENET METAB

SN - 1096-7192

IS - 1

ER -