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A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

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A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. / Ensenauer, Regina; Vockley, Jerry; Willard, Jan-Marie; Huey, Joseph C; Sass, Jörn Oliver; Edland, Steven D; Burton, Barbara K; Berry, Susan A; Santer, René; Grünert, Sarah; Koch, Hans-Georg; Marquardt, Iris; Rinaldo, Piero; Hahn, Sihoun; Matern, Dietrich.

In: AM J HUM GENET, Vol. 75, No. 6, 6, 2004, p. 1136-1142.

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

Harvard

Ensenauer, R, Vockley, J, Willard, J-M, Huey, JC, Sass, JO, Edland, SD, Burton, BK, Berry, SA, Santer, R, Grünert, S, Koch, H-G, Marquardt, I, Rinaldo, P, Hahn, S & Matern, D 2004, 'A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.', AM J HUM GENET, vol. 75, no. 6, 6, pp. 1136-1142. <http://www.ncbi.nlm.nih.gov/pubmed/15486829?dopt=Citation>

APA

Ensenauer, R., Vockley, J., Willard, J-M., Huey, J. C., Sass, J. O., Edland, S. D., Burton, B. K., Berry, S. A., Santer, R., Grünert, S., Koch, H-G., Marquardt, I., Rinaldo, P., Hahn, S., & Matern, D. (2004). A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. AM J HUM GENET, 75(6), 1136-1142. [6]. http://www.ncbi.nlm.nih.gov/pubmed/15486829?dopt=Citation

Vancouver

Ensenauer R, Vockley J, Willard J-M, Huey JC, Sass JO, Edland SD et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. AM J HUM GENET. 2004;75(6):1136-1142. 6.

Bibtex

@article{fab212b8d47c4cc1bec74048c3f8f055,
title = "A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.",
abstract = "Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause significant morbidity and mortality. Since the implementation, in many states and countries, of newborn screening (NBS) by tandem mass spectrometry, IVA can now be diagnosed presymptomatically. Molecular genetic analysis of the IVD gene for 19 subjects whose condition was detected through NBS led to the identification of one recurring mutation, 932C-->T (A282V), in 47% of mutant alleles. Surprisingly, family studies identified six healthy older siblings with identical genotype and biochemical evidence of IVA. Our findings indicate the frequent occurrence of a novel mild and potentially asymptomatic phenotype of IVA. This has significant consequences for patient management and counseling.",
author = "Regina Ensenauer and Jerry Vockley and Jan-Marie Willard and Huey, {Joseph C} and Sass, {J{\"o}rn Oliver} and Edland, {Steven D} and Burton, {Barbara K} and Berry, {Susan A} and Ren{\'e} Santer and Sarah Gr{\"u}nert and Hans-Georg Koch and Iris Marquardt and Piero Rinaldo and Sihoun Hahn and Dietrich Matern",
year = "2004",
language = "Deutsch",
volume = "75",
pages = "1136--1142",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",

}

RIS

TY - JOUR

T1 - A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

AU - Ensenauer, Regina

AU - Vockley, Jerry

AU - Willard, Jan-Marie

AU - Huey, Joseph C

AU - Sass, Jörn Oliver

AU - Edland, Steven D

AU - Burton, Barbara K

AU - Berry, Susan A

AU - Santer, René

AU - Grünert, Sarah

AU - Koch, Hans-Georg

AU - Marquardt, Iris

AU - Rinaldo, Piero

AU - Hahn, Sihoun

AU - Matern, Dietrich

PY - 2004

Y1 - 2004

N2 - Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause significant morbidity and mortality. Since the implementation, in many states and countries, of newborn screening (NBS) by tandem mass spectrometry, IVA can now be diagnosed presymptomatically. Molecular genetic analysis of the IVD gene for 19 subjects whose condition was detected through NBS led to the identification of one recurring mutation, 932C-->T (A282V), in 47% of mutant alleles. Surprisingly, family studies identified six healthy older siblings with identical genotype and biochemical evidence of IVA. Our findings indicate the frequent occurrence of a novel mild and potentially asymptomatic phenotype of IVA. This has significant consequences for patient management and counseling.

AB - Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause significant morbidity and mortality. Since the implementation, in many states and countries, of newborn screening (NBS) by tandem mass spectrometry, IVA can now be diagnosed presymptomatically. Molecular genetic analysis of the IVD gene for 19 subjects whose condition was detected through NBS led to the identification of one recurring mutation, 932C-->T (A282V), in 47% of mutant alleles. Surprisingly, family studies identified six healthy older siblings with identical genotype and biochemical evidence of IVA. Our findings indicate the frequent occurrence of a novel mild and potentially asymptomatic phenotype of IVA. This has significant consequences for patient management and counseling.

M3 - SCORING: Zeitschriftenaufsatz

VL - 75

SP - 1136

EP - 1142

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

IS - 6

M1 - 6

ER -