TY  - JOUR
AU  - Sarajlija, Adrijan
AU  - Đorđević, Maja
AU  - Kecman, Bozica
AU  - Skakić, Anita
AU  - Pavlović, Sonja
AU  - Pasić, Srdjan
AU  - Stojiljković, Maja
PY  - 2020
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1387
AB  - Background: Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal significant genotype-phenotype correlation. Our objective was to explore the frequency and severity of neutropenia and it's complications in relation to genotype of GSD-Ib patients. Methods: We estimated cumulative incidence of neutropenia and severe neutropenia, relation of genotype to absolute neutrophil count (ANC), and dynamics of ANC during serious bacterial infections (SBI) in a cohort of Serbian GSD Ib patients. Impact of genotype on GSD Ib-related inflammatory bowel disease (IBD) was also assessed. Results: Absolute neutrophil count (ANC)  lt  1500/mm(3) was present in all 33 patients, with severe neutropenia (ANC  lt  500/mm(3)) occurring in 60.6% of patients. The median age at neutropenia onset was 24 months, while severe neutropenia developed at median of 4.5 years. The ANC was elevated during 90.5% episodes of SBI. Genotypes c.81T  gt  A/c.785G  gt  A and c.81T  gt  A/c.1042_1043delCT are associated with earlier onset of neutropenia. Patients carrying c.785G  gt  A mutation express a higher capacity for ANC increase during SBI. Inflammatory bowel disease was diagnosed in 8 patients (24.2% of total) with median age of onset at 7 years. Risk for IBD occurrence was not significantly affected by gender, genotype and severity of neutropenia. Conclusions: We may conclude that certain mutations in SLC37A4 influence the risk for severe neutropenia occurrence but also affect the capacity to increase ANC during SBI.
PB  - Elsevier, Amsterdam
T2  - European Journal of Medical Genetics
T1  - Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib
IS  - 3
VL  - 63
DO  - 10.1016/j.ejmg.2019.103767
ER  - 

@article{
author = "Sarajlija, Adrijan and Đorđević, Maja and Kecman, Bozica and Skakić, Anita and Pavlović, Sonja and Pasić, Srdjan and Stojiljković, Maja",
year = "2020",
abstract = "Background: Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal significant genotype-phenotype correlation. Our objective was to explore the frequency and severity of neutropenia and it's complications in relation to genotype of GSD-Ib patients. Methods: We estimated cumulative incidence of neutropenia and severe neutropenia, relation of genotype to absolute neutrophil count (ANC), and dynamics of ANC during serious bacterial infections (SBI) in a cohort of Serbian GSD Ib patients. Impact of genotype on GSD Ib-related inflammatory bowel disease (IBD) was also assessed. Results: Absolute neutrophil count (ANC)  lt  1500/mm(3) was present in all 33 patients, with severe neutropenia (ANC  lt  500/mm(3)) occurring in 60.6% of patients. The median age at neutropenia onset was 24 months, while severe neutropenia developed at median of 4.5 years. The ANC was elevated during 90.5% episodes of SBI. Genotypes c.81T  gt  A/c.785G  gt  A and c.81T  gt  A/c.1042_1043delCT are associated with earlier onset of neutropenia. Patients carrying c.785G  gt  A mutation express a higher capacity for ANC increase during SBI. Inflammatory bowel disease was diagnosed in 8 patients (24.2% of total) with median age of onset at 7 years. Risk for IBD occurrence was not significantly affected by gender, genotype and severity of neutropenia. Conclusions: We may conclude that certain mutations in SLC37A4 influence the risk for severe neutropenia occurrence but also affect the capacity to increase ANC during SBI.",
publisher = "Elsevier, Amsterdam",
journal = "European Journal of Medical Genetics",
title = "Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib",
number = "3",
volume = "63",
doi = "10.1016/j.ejmg.2019.103767"
}

Sarajlija, A., Đorđević, M., Kecman, B., Skakić, A., Pavlović, S., Pasić, S.,& Stojiljković, M.. (2020). Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib. in European Journal of Medical Genetics
Elsevier, Amsterdam., 63(3).
https://doi.org/10.1016/j.ejmg.2019.103767

Sarajlija A, Đorđević M, Kecman B, Skakić A, Pavlović S, Pasić S, Stojiljković M. Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib. in European Journal of Medical Genetics. 2020;63(3).
doi:10.1016/j.ejmg.2019.103767 .

Sarajlija, Adrijan, Đorđević, Maja, Kecman, Bozica, Skakić, Anita, Pavlović, Sonja, Pasić, Srdjan, Stojiljković, Maja, "Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib" in European Journal of Medical Genetics, 63, no. 3 (2020),
https://doi.org/10.1016/j.ejmg.2019.103767 . .

TY  - JOUR
AU  - Stojiljković, Maja
AU  - Klaassen, Kristel
AU  - Đorđević, Maja
AU  - Sarajlija, Adrijan
AU  - Kecman, Bozica
AU  - Ugrin, Milena
AU  - Zukić, Branka
AU  - Desviat, Lourdes R.
AU  - Pavlović, Sonja
AU  - Perez, Belen
PY  - 2015
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/882
AB  - Hyperphenylalaninemia (HPA) [phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiencies] is rare inborn metabolic disease characterized by elevated phenylalanine level in body fluids. In Serbia, 62 HPA patients have been identified through newborn screening since 1983. However, pterin pattern analysis is not performed. We present a patient initially diagnosed and treated as classical PKU. At 3 years of age, during infection with H1N1 influenza A virus, the patient first developed a neurologic crisis with encephalopathy and dystonic movements. We suspected that the patient is the first case of BH4 deficiency identified in Serbia. Genetic analyses showed that the patient does not have disease- causing variants of the PAH gene and carries a p. Asp136Val mutation in homozygous state in the PTS gene. For patients with treatable rare diseases, like PKU and BH4 deficiencies, correct diagnosis is crucial for the implementation of optimal treatment. If biochemical tests needed for differential diagnosis are not available, our experience emphasizes the necessity of immediate genetic testing after newborn screening.
PB  - Walter De Gruyter Gmbh, Berlin
T2  - Journal of Pediatric Endocrinology & Metabolism
T1  - Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia
EP  - 480
IS  - 3-4
SP  - 477
VL  - 28
DO  - 10.1515/jpem-2014-0297
ER  - 

@article{
author = "Stojiljković, Maja and Klaassen, Kristel and Đorđević, Maja and Sarajlija, Adrijan and Kecman, Bozica and Ugrin, Milena and Zukić, Branka and Desviat, Lourdes R. and Pavlović, Sonja and Perez, Belen",
year = "2015",
abstract = "Hyperphenylalaninemia (HPA) [phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiencies] is rare inborn metabolic disease characterized by elevated phenylalanine level in body fluids. In Serbia, 62 HPA patients have been identified through newborn screening since 1983. However, pterin pattern analysis is not performed. We present a patient initially diagnosed and treated as classical PKU. At 3 years of age, during infection with H1N1 influenza A virus, the patient first developed a neurologic crisis with encephalopathy and dystonic movements. We suspected that the patient is the first case of BH4 deficiency identified in Serbia. Genetic analyses showed that the patient does not have disease- causing variants of the PAH gene and carries a p. Asp136Val mutation in homozygous state in the PTS gene. For patients with treatable rare diseases, like PKU and BH4 deficiencies, correct diagnosis is crucial for the implementation of optimal treatment. If biochemical tests needed for differential diagnosis are not available, our experience emphasizes the necessity of immediate genetic testing after newborn screening.",
publisher = "Walter De Gruyter Gmbh, Berlin",
journal = "Journal of Pediatric Endocrinology & Metabolism",
title = "Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia",
pages = "480-477",
number = "3-4",
volume = "28",
doi = "10.1515/jpem-2014-0297"
}

Stojiljković, M., Klaassen, K., Đorđević, M., Sarajlija, A., Kecman, B., Ugrin, M., Zukić, B., Desviat, L. R., Pavlović, S.,& Perez, B.. (2015). Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. in Journal of Pediatric Endocrinology & Metabolism
Walter De Gruyter Gmbh, Berlin., 28(3-4), 477-480.
https://doi.org/10.1515/jpem-2014-0297

Stojiljković M, Klaassen K, Đorđević M, Sarajlija A, Kecman B, Ugrin M, Zukić B, Desviat LR, Pavlović S, Perez B. Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. in Journal of Pediatric Endocrinology & Metabolism. 2015;28(3-4):477-480.
doi:10.1515/jpem-2014-0297 .

Stojiljković, Maja, Klaassen, Kristel, Đorđević, Maja, Sarajlija, Adrijan, Kecman, Bozica, Ugrin, Milena, Zukić, Branka, Desviat, Lourdes R., Pavlović, Sonja, Perez, Belen, "Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia" in Journal of Pediatric Endocrinology & Metabolism, 28, no. 3-4 (2015):477-480,
https://doi.org/10.1515/jpem-2014-0297 . .