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Öğe The Acute Effects of Different Vaccinium Berries Supplemetations on Oxidative and Antioxidant Status of Rats(2009) Uçar, Sema Kalkan; Yıldırım, Hatice Kalkan; Akçay, Yasemin; Sözmen, Eser…Öğe Application of Biotechnological Methods for Removal of Phenylalanine from Different Protein Sources(2014) Uçar, Sema Kalkan; Çoker, Mahmut; Yıldırım, Hatice Kalkan…Öğe Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey(2018) Yazıcı, Havva; Er, Esra; Canda, Ebru; Habif, Sara; Uçar, Sema Kalkan; Çoker, MahmutAim: the aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3- cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these patients. We want to mention that the patients with HTI have heterogeneous clinic. Early diagnosis and early treatment important to prevent the complications. Materials and Methods: A retrospective study was carried out with twenty nine patients with HTI and who had been followed up by Ege University Faculty of Medicine, Department of Pediatric Metabolic Diseases and Nutrition Unit between December 1996 and September 2017. Results: Eight patients were acute form, thirteen were subacute and eight patients were chronic form. Mean age onset of clinical symptoms was 3.7±1.6, 9±1.6 and 41±27 months in acute, subacute and chronic HTI patients, respectively. the mean interval from the first symptom the diagnosis was 12.2 months. Mean of follow-up was 82.2 months (minimum: 1 month-maximum: 203 months). Five patients of HTI diagnosed with hepatocellular carcinoma and neurogenic crises were detected in four patients. Conclusion: NTBC treatment is effective and improves the prognosis of HTI. But early diagnosis and treatment leads to much better outcome. Adherence to the diet and treatment and follow-up schedule of the patients are vital.Öğe Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience(2018) Canda, Ebru; Yazıcı, Havva; Er, Esra; Eraslan, Cenk; Uçar, Sema Kalkan; Çoker, MahmutAim: Mucopolysaccharidosis Type IVA (MPS IVA), Morquio A, is caused by the deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase. Multisystemic involvements include skeletal systems, pulmonary disease, valvular heart disease, hearing loss, mild hepatomegaly, corneal clouding, coarse facial features. Materials and Methods: We retrospectively analyzed clinical and laboratory and follow up findings of our 25 patients with ministry for primary industries independent verification agency. Results: Mean age of the patients was 14.9±7.05 (5.5-36 years). Mean age at diagnosis was 7.3±6.2 years (6 months-31 years). Female: male ratio was 13/12. All patients had skeletal manifestation and X-ray analysis demonstrated “dysostosis multiplex”. Twelve patients (48%) had cardiac valve disease. Twenty three (92%) patients had corneal clouding, 15 (60%) patients had hearing loss and 9 (36%) had hepatomegaly. Six (24%) patients were unable to walk. Mean follow up period is 7.4 years ±3.5 years (3 months-17 years). Four patients have not visit our clinical for last ?3 years. Three patients died during follow up. Conclusion: MPS IVA is a severe disorder and is usually fatal in the second or third decade of life due to the complications of the disease. Early diagnosis of the patient became more important, because specific therapy with elasulphase alpha was approved recent years ago.Öğe Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey(2018) Yazıcı, Havva; Canda, Ebru; Er, Esra; Uçar, Sema Kalkan; Onay, Hüseyin; Özkınay, Ferda; Çoker, MahmutAim: Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase (IDS) enzyme, which is one of the degradative enzymes of mucopolysaccharides. the purpose of this study is to present the clinical, biochemical and molecular characteristics of fifteen patients with MPS II in western Turkey. Materials and Methods: A retrospective study was carried out on fifteen patients with MPS II who were followed up by Ege University Faculty of Medicine, Unit of Pediatric Metabolic Diseases and Nutrition between October 2004 and September 2017. Results: the age range of the patients enrolled in the study was between 11 months and 318 months at the time of diagnosis. the most common symptom was coarse face. on physical examination, all of the patients presented with coarse face, macrocephaly and organomegaly. Except for one patient, all other were severe phenotype. IDS activity was significantly decreased in all patients in whom enzyme analysis was performed. in this study, one novel mutation was described. Conclusion: This is the first study on the clinical and molecular characterization of Turkish MPS II patients. the majority of the patients had neurologic involvement with different degrees of severity. the molecular analysis revealed one novel mutation.Öğe Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria(2018) Canda, Ebru; Köse, Melis; Yazıcı, Havva; Er, Esra; Eraslan, Cenk; Uçar, Sema Kalkan; Karaca, EminAim: L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene. Materials and Methods: Here we discuss the clinical and molecular characteristics in patients with L2HGA. Results: There were eight patients with L2HGA. Their median age was 16 (9.5-37) years. Five of them were female and three of them were male. the main symptoms of the patients were psychomotor retardation (8/8), cerebellar ataxia (5/8), extrapyramidal symptoms (7/8) and seizures (4/8). All patients had behavioral problems. Elevated urinary L-2-hydroxy (L-2-OH) glutaric acid was detected and the median level of urine L-2-OH glutaric acid at diagnosis was 146 (60-1460 nmol/mol creat). Characteristic magnetic resonance imaging findings including subcortical cerebral white matter abnormalities with T2 hyperintensities of the dentate nucleus, globus pallidus and putamen were detected. Two patients had homozygous R335X, two patients had homozygous R282Q, two patients had homozygous R302L and one patient had compound heterozygous P302L/A64T mutation in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Conclusion: Because of the slow progression of the disease, the diagnosis of the patients is usually belated. L2HGA must be considered in the differential diagnosis based on clinical findings and specific findings in cranial magnetic resonance imaging. in our study, one of our patients has a novel mutation.Öğe The decision making levels of urine tetrasaccharide for diagnosisof Pompe disease(2019) Canbay, Erhan; Vural, Melisa; Uçar, Sema Kalkan; Sezer, Ebru; Yüceyar, Ayşe Nur; Karasoy, Hatice; Çoker, Mahmut…Öğe Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis(2019) Canda, Ebru; Köse, Melis; Kağnıcı, Mehtap; Dondurmacı, Meral; Uçar, Sema Kalkan; Sözmen, Eser; Çoker, MahmutAim: Cardiovascular involvement is common in patients with mucopolysaccharidoses (MPS). in this study, we investigated the effects of the markers involved in vascular endothelial injury pathogenesis [transforming growth factor ?- (TGF-?)], interleukin-6 (IL-6), IL-10, high sensitive-C reactive protein (hs-CRP), vascular endothelial growth factor (VEGF), N-terminal pro-Natriuretic peptide (NT-proBNP) and the clinical, laboratory and echocardiographic findings of the patients. Materials and Methods: A total of 37 patients (5 MPS I, 4 MPS II, 2 MPS IIIa, 4 MPS IIIb, 14 MPS IVa, 8 MPS VI) and 32 controls with similar age and sex were included in the study. Results: Corneal clouding was seen in 29 (78%) patients. There were 23 (62%) patients with organomegaly, and 28 (75%) patients with hearing loss. When the groups were compared in terms of NT-proBNP, hs-CRP, TGF-?, IL-6, IL-10 and VEGF levels, there was a statistically significant increase in the patient group for NT-proBNP and VEGF (p=0.04, p=0.03, respectively). the carotid intima media thickness was statistically significantly higher in the patient group (p<0.001). the left ventricular diastolic diameter was significantly higher in the patient group (p=0.009), intraventricular septum thickness was significantly higher in the patient group (p<0.001). the E/A ratio was significantly lower in the patient group (p<0.001). Conclusion: Cardiac involvement in MPS patients is a major cause of mortality and morbidity. It is thought that cytokines, proinflammatory markers are elevated in patients with vascular damage like other lysosomal diseases. There is a need for further studies to determine biomarkers for vascular involvement.Öğe Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis(2019) Canda, Ebru; Köse, Melis; Kağnıcı, Mehtap; Dondurmacı, Meral; Uçar, Sema Kalkan; Sözmen, Eser; Çoker, MahmutAim: Cardiovascular involvement is common in patients with mucopolysaccharidoses (MPS). In this study, we investigated the effects of the markers involved in vascular endothelial injury pathogenesis [transforming growth factor ?- (TGF-?)], interleukin-6 (IL-6), IL-10, high sensitive-C reactive protein (hs-CRP), vascular endothelial growth factor (VEGF), N-terminal pro-Natriuretic peptide (NT-proBNP) and the clinical, laboratory and echocardiographic findings of the patients. Materials and Methods: A total of 37 patients (5 MPS I, 4 MPS II, 2 MPS IIIa, 4 MPS IIIb, 14 MPS IVa, 8 MPS VI) and 32 controls with similar age and sex were included in the study. Results: Corneal clouding was seen in 29 (78%) patients. There were 23 (62%) patients with organomegaly, and 28 (75%) patients with hearing loss. When the groups were compared in terms of NT-proBNP, hs-CRP, TGF-?, IL-6, IL-10 and VEGF levels, there was a statistically significant increase in the patient group for NT-proBNP and VEGF (p=0.04, p=0.03, respectively). The carotid intima media thickness was statistically significantly higher in the patient group (p<0.001). The left ventricular diastolic diameter was significantly higher in the patient group (p=0.009), intraventricular septum thickness was significantly higher in the patient group (p<0.001). The E/A ratio was significantly lower in the patient group (p<0.001). Conclusion: Cardiac involvement in MPS patients is a major cause of mortality and morbidity. It is thought that cytokines, proinflammatory markers are elevated in patients with vascular damage like other lysosomal diseases. There is a need for further studies to determine biomarkers for vascular involvement.Öğe An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis(2018) Er, Esra; Canda, Ebru; Yazıcı, Havva; Eraslan, Cenk; Sözmen, Eser Yıldırım; Uçar, Sema Kalkan; Çoker, MahmutAim: the purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis. Materials and Methods: Patients with GM2 gangliosidosis who were referred to Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nutrition and Metabolism between January 2004 and December 2016, were included in this study. Diagnosis was confirmed by determining the level of serum ?-hexosaminidase activity and genetic mutation analysis. the demographic and clinical features are reported for 8 patients with Tay-Sachs disease (TSD) and 6 with Sandhoff disease. Results: the mean age at diagnosis was 18.2 months (range 4-48 months) and 14.5 months (range 8-36 months) for patients with TSD or Sandhoff disease respectively. the initial and main complaint in 100% of the patients were neurological disorders, such as developmental delay, developmental regression or both; seizures and macrocephaly. None of the patients exhibited evidence of organomegaly. Cranial magnetic resonance imaging results were normal in 36% of the cases, 55% of the cases had bilateral thalami involvement presenting as T2 hyperintensity especially at the posterior thalami and 9% of cases had myelination delay. Conclusion: GM2 gangliosidosis disease should be considered for children with developmental regression and/or delay. To prevent a delay in diagnosis, ?-hexosaminidase activity in serum and genetic mutation analysis should be undertaken in suspected cases. Curative gene therapy may be available in the future.Öğe False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor(2018) Sözmen, Eser Yıldırım; Dondurmacı, Meral; Uçar, Sema Kalkan; Çoker, MahmutAim: Recently dried blood spot (DBS) samples have been recommended as a screening test for Lysosomal Storage diseases. Although DBS samples have many advantages including non-invasiveness, cost and transportation, usage of these samples is limited by its high false positive rate. We aimed to investigate any possible effect of the leucocyte number on enzyme activity in dried blood samples in a retrospective study. Materials and Methods: Data was collected from subjects (n=263) for whom hematological parameters were available in the database of Ege University Hospital. the lysosomal enzyme activity results (alpha glycosidase, glycocerebrosidase, alpha galactosidase, sphingomyelinase and galactocerebrosidase) were re-evaluated with regard to the leucocyte number. Enzyme activities were measured using fluorometric and liquid chromatography-tandem mass spectrometry methods. Results: All enzyme activities closely correlated with the total number of leucocyte, since leucocytes are the main source of lysosomal enzymes. Glycocerebrosidase and galactocerebrosidase presented a positive correlation with the number of neutrophils and sphingomyelinase showed a positive correlation with the number of lymphocytes. When we recalculated the lysosomal enzyme activities with regard to the leucocyte number, the false positive rates for glycocerebrosidase, sphingomyelinase and alpha galactosidase decreased from 20%, 10.5% and 10.8% to 4.5%, 4.4% and 4.2%, respectively. Conclusions: Our data indicated that the enzyme activity in dried blood samples including low leucocyte number might be found lower than reference intervals resulting in false positive diagnosis. We concluded that the calculation of enzyme activity with regard to the number of leucocytes might produce more reliable results and might be helpful in decreasing the false positive rate.Öğe A fast and convenient UPLC - MSMS method for routine analysis of GALT activity from dried blood spot.(2019) Topbas, Muhammed; Canbay, Erhan; Sezer, Ebru; Uçar, Sema Kalkan; Çoker, Mahmut…Öğe Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience(2018) Canda, Ebru; Yazıcı, Havva; Er, Esra; Uçar, Sema Kalkan; Onay, Hüseyin; Sözmen, Eser Yıldırım; Çoker, MahmutAim: Niemann-Pick disease (NPD) is a lysosomal storage disease caused by an insufficient activity of acid sphingomyelinase (ASM) resulting in the accumulation of sphingomyelin. Type A is an infantile neurovisceral fatal form characterized by hepatosplenomegaly and rapidly progressive neurological deterioration, while the Type B nonneuronopathic disease presents visceral form and sufferers usually survive into adulthood. Materials and Methods: Here we present clinical and molecular findings for 19 patients with NPD A/B. Results: Nineteen patients with ASM deficiency were enrolled in our study. Nine of them were female and ten patients were male. the median age of the patients was 7.5 years (minimum-maximum: 1-57 years), the median age at diagnosis was 3 years (minimum-maximum: 6 months-56 years). the median length of the follow up period was 4.07±3.8 years (range: 1 month-14 years). Eighteen patients had hepatosplenomegaly, one patient had splenomegaly. Pulmonary involvement was detected in 10 patients. Six patients died during follow up. Conclusion: Patients with Niemann Pick A/B have a high mortality and morbidity rate. There is a need for a safe and effective therapy for patients with NPD A/B to reduce splenomegaly, to improve liver and respiratory function and to reduce the rate of mortality and morbidity.Öğe A Metabolism Perspective on Pediatric Rhabdomyolysis(2021) Uçar, Sema Kalkan; Yazıcı, HavvaRhabdomyolysis is a clinical emergency that can result in life-threatening complications. The etiology for rhabdomyolysis is broad. Infecitons are the most common cause in pediatric patients. Underlying inherited metabolic diseases are also a cause of rhabdomyolysis and can often have a diagnostic challenge, considering their marked heterogeneity and comparative rarity. The purpose of this review is to summarize the essential characteristics and diagnostic clues of inborn errors of metabolism associated with rhabdomyolysis.Öğe Mukopolisakkaridoz tip IVa’da (Morquio sendromu) spinal tutulum: Tanı veizlemde MRG’nin önemi(2017) Aydın, Elçin; Eraslan, Cenk; Canda, Ebru; Yazıcı, Havva; Uçar, Sema Kalkan; Çoker, Mahmut; Çallı, Mehmet Cem…Öğe Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb(2022) Canda, Ebru; Coker, Mahmut; Uçar, Sema Kalkan; Sarsık Kumbaracı, Banu; Bulut, İpek Kaplan; Erdem, Fehime; Celik, Merve YoldasGlycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome. A 4 year-old-patient was diagnosed with GSD IXb at 13 months of age with mildly elevated transaminases and hepatomegaly. During the follow-up period, there was no hypoglycemia. Development and growth were normal. In the last month, the onset of generalized edema was reported. Urinalysis showed a high protein level. He had low serum albumin, high serum triglycerides cholesterol. Complement levels were normal. The patient was diagnosed as minimal change disease with a renal biopsy. He was treated with oral prednisone. Minimal Change Disease is the most common cause of idiopathic nephrotic syndrome cases in children, and the first step for therapy is the usage of corticosteroids. This is the first report of nephrotic syndrome associated with GSD IXb disease.Öğe Tekrarlayan ketoasidoz atakları: Keton metabolizma bozuklukluğu olabilir mi?(2018) Canda, Ebru; Yazıcı, Havva; Er, Esra; Uçar, Sema Kalkan; Gemperle-Brıtschgı, Corinne; Habif, Sara; Sass, Jörn OliverAmaç: Keton cisim oluşumu (ketogenez) bozuklukları; mitokondriyel 3-hidroksi-3- metil glutaril CoA sentaz (Mhs) ve 3-hidroksi-3-metil glutaril CoA liyaz (HL) enzim eksiklikleri sonucu oluşur. Keton cisim yıkımı (ketoliz) bozuklukları ise suksinil CoA: 3 oksoasit CoA transferaz (SCOT) ve asetoasetil CoA thiolaz-beta ketotiolaz (MAT) enzim eksiklikleri sonucu oluşmaktadır. Keton metabolizma bozukluğu tanısıyla izlenen hastaların klinik ve laboratuvar bulguları ile değerlendirilmesi amaçlandı. Yöntem: Keton metabolizması bozukluğu tanısıyla izlenen hasta verileri retrospektif olarak incelendi. Bulgular: Dört hastada HL eksikliği, 3 hastada MAT eksikliği ve 2 hastada SCOT eksikliği tanısı mevcuttu. Hastaların ortanca yaşı 5 yıl (6 ay-15,5 yıl), ilk metabolik dekompanzasyon atak yaşı ortalama 7,7 ay (22 gün-19 ay) idi. MAT eksikliği olan bir hasta, kardeş taraması ile asemptomatik dönemde tanı aldı. İki hastada spastik tetraparezi gibi ağır nörolojik defisit gelişti. Dekompanzasyon ataklarının beslenememe, kusma ve gastroenterit gibi infeksiyon sonrası geliştiği görüldü. Sonuç: Açıklanamayan metabolik asidoz atakları durumunda keton metabolizma bozuklukları akılda tutulmalıdır. Akut dekompanzasyon değişik yaşlarda ortaya çıkabilir, klinik şiddeti değişken olabilir. Erken tanı ve uygun tedavi mortalite ve morbidite açısından çok önemlidir.Öğe Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone(2018) Yazıcı, Havva; Canda, Ebru; Er, Esra; Kılınç, Mehmet Arda; Uçar, Sema Kalkan; Karapınar, Bülent; Çoker, MahmutHereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. the liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular carcinoma can be seen as a long-term complication. An effective treatment has been available with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) since 1992. Neurogenic crises do not take place in HTI patients who are treated with NTBC. Here, we report on a seven-year-old boy who underwent a severe neurological crisis including anorexia, vomiting, weakness, hyponatremia, paresthesia and paralysis of the extremities, seizure and arterial hypertension after an interruption of NTBC treatment. With the re-introduction of NTBC, the patient gradually reacquired normal neurological functions, normal blood pressure and recovered completely