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Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

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Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature. / Ninković, Dorotea; Sarnavka, Vladimir; Bašnec, Anica; Ćuk, Mario; Ramadža, Danijela Petković; Fumić, Ksenija; Kušec, Vesna; Santer, René; Barić, Ivo.

In: J PEDIATR ENDOCR MET, Vol. 29, No. 9, 01.09.2016, p. 1083-8.

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

Harvard

Ninković, D, Sarnavka, V, Bašnec, A, Ćuk, M, Ramadža, DP, Fumić, K, Kušec, V, Santer, R & Barić, I 2016, 'Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature', J PEDIATR ENDOCR MET, vol. 29, no. 9, pp. 1083-8. https://doi.org/10.1515/jpem-2016-0086

APA

Ninković, D., Sarnavka, V., Bašnec, A., Ćuk, M., Ramadža, D. P., Fumić, K., Kušec, V., Santer, R., & Barić, I. (2016). Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature. J PEDIATR ENDOCR MET, 29(9), 1083-8. https://doi.org/10.1515/jpem-2016-0086

Vancouver

Ninković D, Sarnavka V, Bašnec A, Ćuk M, Ramadža DP, Fumić K et al. Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature. J PEDIATR ENDOCR MET. 2016 Sep 1;29(9):1083-8. https://doi.org/10.1515/jpem-2016-0086

Bibtex

@article{67d84d5971ee4be4be086aec6f00f2d6,
title = "Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature",
abstract = "Hyperinsulinism-hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease characterized by recurrent hypoglycemia and persistent mild elevation of plasma ammonia. HI/HA syndrome is one of the more common forms of congenital hyperinsulinism (CHI), caused by activating mutations within the GLUD1 gene that encodes the mitochondrial enzyme glutamate dehydrogenase (GDH). We report here on monozygotic twin girls presented with fasting- and protein-induced hypoglycemia and mild persistent hyperammonemia. Genetic analysis revealed that both girls were heterozygous for a novel missense mutation within exon 11 [c.1499A>T, p.(R443W)] of the GLUD1 gene. Despite early treatment with diazoxide and a low protein diet, they both developed non-hypoglycemic seizures in early childhood followed by cognitive impairment. In addition to their clinical course, a review of the literature on HI/HA syndrome is provided.",
author = "Dorotea Ninkovi{\'c} and Vladimir Sarnavka and Anica Ba{\v s}nec and Mario {\'C}uk and Ramad{\v z}a, {Danijela Petkovi{\'c}} and Ksenija Fumi{\'c} and Vesna Ku{\v s}ec and Ren{\'e} Santer and Ivo Bari{\'c}",
year = "2016",
month = sep,
day = "1",
doi = "10.1515/jpem-2016-0086",
language = "English",
volume = "29",
pages = "1083--8",
journal = "J PEDIATR ENDOCR MET",
issn = "0334-018X",
publisher = "Walter de Gruyter GmbH & Co. KG",
number = "9",

}

RIS

TY - JOUR

T1 - Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

AU - Ninković, Dorotea

AU - Sarnavka, Vladimir

AU - Bašnec, Anica

AU - Ćuk, Mario

AU - Ramadža, Danijela Petković

AU - Fumić, Ksenija

AU - Kušec, Vesna

AU - Santer, René

AU - Barić, Ivo

PY - 2016/9/1

Y1 - 2016/9/1

N2 - Hyperinsulinism-hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease characterized by recurrent hypoglycemia and persistent mild elevation of plasma ammonia. HI/HA syndrome is one of the more common forms of congenital hyperinsulinism (CHI), caused by activating mutations within the GLUD1 gene that encodes the mitochondrial enzyme glutamate dehydrogenase (GDH). We report here on monozygotic twin girls presented with fasting- and protein-induced hypoglycemia and mild persistent hyperammonemia. Genetic analysis revealed that both girls were heterozygous for a novel missense mutation within exon 11 [c.1499A>T, p.(R443W)] of the GLUD1 gene. Despite early treatment with diazoxide and a low protein diet, they both developed non-hypoglycemic seizures in early childhood followed by cognitive impairment. In addition to their clinical course, a review of the literature on HI/HA syndrome is provided.

AB - Hyperinsulinism-hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease characterized by recurrent hypoglycemia and persistent mild elevation of plasma ammonia. HI/HA syndrome is one of the more common forms of congenital hyperinsulinism (CHI), caused by activating mutations within the GLUD1 gene that encodes the mitochondrial enzyme glutamate dehydrogenase (GDH). We report here on monozygotic twin girls presented with fasting- and protein-induced hypoglycemia and mild persistent hyperammonemia. Genetic analysis revealed that both girls were heterozygous for a novel missense mutation within exon 11 [c.1499A>T, p.(R443W)] of the GLUD1 gene. Despite early treatment with diazoxide and a low protein diet, they both developed non-hypoglycemic seizures in early childhood followed by cognitive impairment. In addition to their clinical course, a review of the literature on HI/HA syndrome is provided.

U2 - 10.1515/jpem-2016-0086

DO - 10.1515/jpem-2016-0086

M3 - SCORING: Journal article

C2 - 27383869

VL - 29

SP - 1083

EP - 1088

JO - J PEDIATR ENDOCR MET

JF - J PEDIATR ENDOCR MET

SN - 0334-018X

IS - 9

ER -