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Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. / Hagen, Jacob; te Brinke, Heleen; Wanders, Ronald J. A. et al.

In: Journal of inherited metabolic disease, Vol. 38, No. 5, 2015, p. 873-879.

Research output: Contribution to journal › Article › Academic › peer-review

Harvard

Hagen, J, te Brinke, H, Wanders, RJA, Knegt, AC, Oussoren, E, Hoogeboom, AJM, Ruijter, GJG, Becker, D, Schwab, KO, Franke, I, Duran, M, Waterham, HR, Sass, JO & Houten, SM 2015, 'Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria', Journal of inherited metabolic disease, vol. 38, no. 5, pp. 873-879. https://doi.org/10.1007/s10545-015-9841-9

APA

Hagen, J., te Brinke, H., Wanders, R. J. A., Knegt, A. C., Oussoren, E., Hoogeboom, A. J. M., Ruijter, G. J. G., Becker, D., Schwab, K. O., Franke, I., Duran, M., Waterham, H. R., Sass, J. O., & Houten, S. M. (2015). Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. Journal of inherited metabolic disease, 38(5), 873-879. https://doi.org/10.1007/s10545-015-9841-9

Vancouver

Hagen J, te Brinke H, Wanders RJA, Knegt AC, Oussoren E, Hoogeboom AJM et al. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. Journal of inherited metabolic disease. 2015;38(5):873-879. doi: 10.1007/s10545-015-9841-9

Author

Hagen, Jacob ; te Brinke, Heleen ; Wanders, Ronald J. A. et al. / Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. In: Journal of inherited metabolic disease. 2015 ; Vol. 38, No. 5. pp. 873-879.

BibTeX

@article{5b44a3a7a90048b3ada4d66ccf0f33fd,
title = "Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria",
abstract = "Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. To date, DHTKD1 mutations have been reported in two alpha-aminoadipic and alpha-ketoadipic aciduria patients. We have now sequenced DHTKD1 in nine patients diagnosed with alpha-aminoadipic and alpha-ketoadipic aciduria as well as one patient with isolated alpha-aminoadipic aciduria, and identified causal mutations in eight. We report nine novel mutations, including three missense mutations, two nonsense mutations, two splice donor mutations, one duplication, and one deletion and insertion. Two missense mutations, one of which was reported before, were observed in the majority of cases. The clinical presentation of this group of patients was inhomogeneous. Our results confirm that alpha-aminoadipic and alpha-ketoadipic aciduria is caused by mutations in DHTKD1, and further establish that DHTKD1 encodes the E1 subunit of the alpha-ketoadipic acid dehydrogenase complex",
author = "Jacob Hagen and {te Brinke}, Heleen and Wanders, {Ronald J. A.} and Knegt, {Alida C.} and Esmee Oussoren and Hoogeboom, {A. Jeannette M.} and Ruijter, {George J. G.} and Daniel Becker and Schwab, {Karl Otfried} and Ingo Franke and Marinus Duran and Waterham, {Hans R.} and Sass, {J{\"o}rn Oliver} and Houten, {Sander M.}",
year = "2015",
doi = "10.1007/s10545-015-9841-9",
language = "English",
volume = "38",
pages = "873--879",
journal = "Journal of inherited metabolic disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "5",

}

RIS

TY - JOUR

T1 - Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

AU - Hagen, Jacob

AU - te Brinke, Heleen

AU - Wanders, Ronald J. A.

AU - Knegt, Alida C.

AU - Oussoren, Esmee

AU - Hoogeboom, A. Jeannette M.

AU - Ruijter, George J. G.

AU - Becker, Daniel

AU - Schwab, Karl Otfried

AU - Franke, Ingo

AU - Duran, Marinus

AU - Waterham, Hans R.

AU - Sass, Jörn Oliver

AU - Houten, Sander M.

PY - 2015

Y1 - 2015

N2 - Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. To date, DHTKD1 mutations have been reported in two alpha-aminoadipic and alpha-ketoadipic aciduria patients. We have now sequenced DHTKD1 in nine patients diagnosed with alpha-aminoadipic and alpha-ketoadipic aciduria as well as one patient with isolated alpha-aminoadipic aciduria, and identified causal mutations in eight. We report nine novel mutations, including three missense mutations, two nonsense mutations, two splice donor mutations, one duplication, and one deletion and insertion. Two missense mutations, one of which was reported before, were observed in the majority of cases. The clinical presentation of this group of patients was inhomogeneous. Our results confirm that alpha-aminoadipic and alpha-ketoadipic aciduria is caused by mutations in DHTKD1, and further establish that DHTKD1 encodes the E1 subunit of the alpha-ketoadipic acid dehydrogenase complex

AB - Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. To date, DHTKD1 mutations have been reported in two alpha-aminoadipic and alpha-ketoadipic aciduria patients. We have now sequenced DHTKD1 in nine patients diagnosed with alpha-aminoadipic and alpha-ketoadipic aciduria as well as one patient with isolated alpha-aminoadipic aciduria, and identified causal mutations in eight. We report nine novel mutations, including three missense mutations, two nonsense mutations, two splice donor mutations, one duplication, and one deletion and insertion. Two missense mutations, one of which was reported before, were observed in the majority of cases. The clinical presentation of this group of patients was inhomogeneous. Our results confirm that alpha-aminoadipic and alpha-ketoadipic aciduria is caused by mutations in DHTKD1, and further establish that DHTKD1 encodes the E1 subunit of the alpha-ketoadipic acid dehydrogenase complex

U2 - 10.1007/s10545-015-9841-9

DO - 10.1007/s10545-015-9841-9

M3 - Article

C2 - 25860818

VL - 38

SP - 873

EP - 879

JO - Journal of inherited metabolic disease

JF - Journal of inherited metabolic disease

SN - 0141-8955

IS - 5

ER -

ID: 2605854