Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test

R. Saunders-Pullman; N. Blau; K. Hyland; J. Zschocke; T. Nygaard; D. Raymond; V. Shanker; K. Mohrmann; L. Arnold; S. Tabbal; D. Deleon; B. Ford; M. Brin; S. Chouinard; L. Ozelius; C. Klein; S. B. Bressman

doi:10.1016/j.ymgme.2004.07.010

Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test

R. Saunders-Pullman, N. Blau, K. Hyland, J. Zschocke, T. Nygaard, D. Raymond, V. Shanker, K. Mohrmann, L. Arnold, S. Tabbal, D. Deleon, B. Ford, M. Brin, S. Chouinard, L. Ozelius, C. Klein, S. B. Bressman

Institut für Neurogenetik

34 Zitate (Scopus)

Abstract

Phenylalanine loading has been proposed as a diagnostic test for autosomal dominant DRD (dopa-responsive dystonia), and recently, a phenylalanine/tyrosine (phe/tyr) ratio of 7.5 after 4 h was reported as diagnostic of DRD. To test the utility of this test in another sample with DRD, we administered an oral challenge of phenylalanine (100 mg/kg) to 11 individuals with DRD and one non-manifesting gene carrier. Only 6/12 had a 4 h phe/tyr ratio of greater than 7.5, suggesting that additional parameters must be set to avoid missing the diagnosis of DRD, including the need for the plasma phenylalanine to reach a minimum level 600 in order for the test to be valid. We propose that in cases where this minimum plasma phenylalanine level is not reached, plasma tetrahydrobiopterin should be measured or alternatively other symptomatic family members should be screened.

Originalsprache	Englisch
Zeitschrift	Molecular Genetics and Metabolism
Jahrgang	83
Ausgabenummer	3
Seiten (von - bis)	207-212
Seitenumfang	6
ISSN	1096-7192
DOIs	https://doi.org/10.1016/j.ymgme.2004.07.010
Publikationsstatus	Veröffentlicht - 01.11.2004

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The authors thank the families who have graciously participated in this study. This study was supported in part by the Dystonia Medical Research Foundation (RSP, SBB), the Nell and Herbert Singer Fund (RSP), by the Swiss National Science Foundation, Grant No. 31-66953.01 (NB), by the Medical University of Luebeck, Grant No. J-15 (CK), and the Fritz Thyssen Stiftung (CK).

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SDG 3 – Gesundheit und Wohlergehen

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10.1016/j.ymgme.2004.07.010

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Saunders-Pullman, R., Blau, N., Hyland, K., Zschocke, J., Nygaard, T., Raymond, D., Shanker, V., Mohrmann, K., Arnold, L., Tabbal, S., Deleon, D., Ford, B., Brin, M., Chouinard, S., Ozelius, L., Klein, C., & Bressman, S. B. (2004). Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test. Molecular Genetics and Metabolism, 83(3), 207-212. https://doi.org/10.1016/j.ymgme.2004.07.010

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title = "Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test",

abstract = "Phenylalanine loading has been proposed as a diagnostic test for autosomal dominant DRD (dopa-responsive dystonia), and recently, a phenylalanine/tyrosine (phe/tyr) ratio of 7.5 after 4 h was reported as diagnostic of DRD. To test the utility of this test in another sample with DRD, we administered an oral challenge of phenylalanine (100 mg/kg) to 11 individuals with DRD and one non-manifesting gene carrier. Only 6/12 had a 4 h phe/tyr ratio of greater than 7.5, suggesting that additional parameters must be set to avoid missing the diagnosis of DRD, including the need for the plasma phenylalanine to reach a minimum level 600 in order for the test to be valid. We propose that in cases where this minimum plasma phenylalanine level is not reached, plasma tetrahydrobiopterin should be measured or alternatively other symptomatic family members should be screened.",

author = "R. Saunders-Pullman and N. Blau and K. Hyland and J. Zschocke and T. Nygaard and D. Raymond and V. Shanker and K. Mohrmann and L. Arnold and S. Tabbal and D. Deleon and B. Ford and M. Brin and S. Chouinard and L. Ozelius and C. Klein and Bressman, \{S. B.\}",

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Saunders-Pullman, R, Blau, N, Hyland, K, Zschocke, J, Nygaard, T, Raymond, D, Shanker, V, Mohrmann, K, Arnold, L, Tabbal, S, Deleon, D, Ford, B, Brin, M, Chouinard, S, Ozelius, L, Klein, C & Bressman, SB 2004, 'Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test', Molecular Genetics and Metabolism, Jg. 83, Nr. 3, S. 207-212. https://doi.org/10.1016/j.ymgme.2004.07.010

TY - JOUR

T1 - Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test

AU - Saunders-Pullman, R.

AU - Blau, N.

AU - Hyland, K.

AU - Zschocke, J.

AU - Nygaard, T.

AU - Raymond, D.

AU - Shanker, V.

AU - Mohrmann, K.

AU - Arnold, L.

AU - Tabbal, S.

AU - Deleon, D.

AU - Ford, B.

AU - Brin, M.

AU - Chouinard, S.

AU - Ozelius, L.

AU - Klein, C.

AU - Bressman, S. B.

PY - 2004/11/1

Y1 - 2004/11/1

N2 - Phenylalanine loading has been proposed as a diagnostic test for autosomal dominant DRD (dopa-responsive dystonia), and recently, a phenylalanine/tyrosine (phe/tyr) ratio of 7.5 after 4 h was reported as diagnostic of DRD. To test the utility of this test in another sample with DRD, we administered an oral challenge of phenylalanine (100 mg/kg) to 11 individuals with DRD and one non-manifesting gene carrier. Only 6/12 had a 4 h phe/tyr ratio of greater than 7.5, suggesting that additional parameters must be set to avoid missing the diagnosis of DRD, including the need for the plasma phenylalanine to reach a minimum level 600 in order for the test to be valid. We propose that in cases where this minimum plasma phenylalanine level is not reached, plasma tetrahydrobiopterin should be measured or alternatively other symptomatic family members should be screened.

AB - Phenylalanine loading has been proposed as a diagnostic test for autosomal dominant DRD (dopa-responsive dystonia), and recently, a phenylalanine/tyrosine (phe/tyr) ratio of 7.5 after 4 h was reported as diagnostic of DRD. To test the utility of this test in another sample with DRD, we administered an oral challenge of phenylalanine (100 mg/kg) to 11 individuals with DRD and one non-manifesting gene carrier. Only 6/12 had a 4 h phe/tyr ratio of greater than 7.5, suggesting that additional parameters must be set to avoid missing the diagnosis of DRD, including the need for the plasma phenylalanine to reach a minimum level 600 in order for the test to be valid. We propose that in cases where this minimum plasma phenylalanine level is not reached, plasma tetrahydrobiopterin should be measured or alternatively other symptomatic family members should be screened.

UR - https://www.scopus.com/pages/publications/8144220153

U2 - 10.1016/j.ymgme.2004.07.010

DO - 10.1016/j.ymgme.2004.07.010

M3 - Journal articles

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SN - 1096-7192

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JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -

Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test

Abstract

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