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Öğe A New Mutation in Diagnosis of Wolman Disease: Case Report(Aves, 2019) Cansever, Mehmet Şerif; Aslan, Mine; Zubarioglu, TanyalWolman disease (WD) is caused by the complete loss of lysosomal acid lipase (LAL) activity that is essential for hydrolysis of cholesterol esters and triglycerides. It presents with vomiting, diarrhea, poor weight gain, and hepatomegaly subsequently leading to death in infancy. Definite diagnosis is based on genetic confirmation by the LIPA gene sequencing. Several types of mutations, including point mutations, insertions, and deletions, have been reported in LIPA gene. Frameshift mutations are not frequently showed in WD. Here, an 18-day-old female patient in whom the definite diagnosis was made by the LIPA gene sequencing is reported. Genetic analysis resulted in a novel frameshift mutation that has not been reported before.Öğe Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria(Wiley-V C H Verlag Gmbh, 2020) Özçelik, Sirun; Öztekin, Nevin; Kıykım, Ertuğrul; Cansever, Mehmet Şerif; Aktuğlu Zeybek, Ayse ÇiğdemEthylmalonic acid is a metabolic organic acid, and its accumulation in urine is diagnostic of ethylmalonic aciduria. In this study, a simple and fast method employing capillary electrophoresis equipped with capacitively coupled contactless conductivity detection was developed for the detection of ethylmalonic acid in urine samples. The optimized electrophoretic separation was performed in 50 mmol/L 2-(N-morpholino)ethanesulfonic acid solution, buffered at a pH of 6.5, and contained 0.13 mmol/L cetyltrimethylammonium bromide as an electroosmotic modifier. Electrophoresis was run at 28 kV in reversed polarity. The linear range of ethylmalonic acid concentration was between 1 and 100 mg/L with a regression coefficient of 0.9998. This method had good intra- and interday precision with <5% relative standard deviations. The detection limit (signal-to-noise ratio = 3) and the quantification limit (signal-to-noise ratio = 10) values were 0.139 and 0.466 mg/L, respectively. Using our optimized conditions, the method was successfully employed for the detection of ethylmalonic acid in urine sample of ethylmalonic aciduria patient.Öğe Ependimom ve L-2-hidroksiglutarik asidüri: İki kardeş olgu sunumu(2019) Bahar, Semra; Zubarıoğlu, Tanyel; Cansever, Mehmet Şerif; Yalçınkaya, CengizL-2-hidroksiglutarik asidüri (L2HGA), yavaş seyirli, otozomal çekinik geçişli, nörodejeneratif bir metabolikhastalıktır. Hastalığın temel klinik bulgularını motor gelişim basamaklarında gecikme, davranışbozuklukları, febril ve afebril nöbetler oluşturup, sık görülen muayene bulguları arasında makrosefali,mental retardasyon, serebellar ataksi, piramidal ve ekstrapiramidal bulgular yer alır. Beyin manyetikrezonans görüntülemesinde (MRG) subkortikal alandan başlayan beyaz cevher etkilenmesi ile bazalgangliyon ve serebellar dentat nükleus tutulumu tipiktir. Kesin tanı klinik ve radyolojik görüntülemelerineşliğinde serumda, idrarda ve beyin omurilik sıvısında (BOS) artmış 2-hidroksiglutarik asit düzeyiningösterilmesi ve L2HGDH geninin moleküler analizi ile konulur. L2HGA tanısıyla takip edilen hastalardabeyin neoplazmı gelişimi bildirilmiştir. Bu yazıda, adolesan dönemde beyin tümörü nedeniyle opere edilenbir hastada patolojik beyin MRG bulgularının varlığının L2HGA tanısı koydurduğu bir hasta sunulmuştur.Tanı sonrası yapılan aile taramasında hastanın kardeşi de L2HGA tanısı almıştır. Sunulan olgularınışığında, erken yaşta beyin tümörü saptanan hastalarda, eşlik eden gelişim basamaklarında gecikme,mental retardasyon ve patolojik muayene bulgularının varlığında metabolik hastalıkların da ayırıcı tanıdaakılda tutulması, nöro-metabolik hastalıkların spesifik radyolojik bulgularının üzerinde durulması vemetabolik hastalıklarda aile taramasının önemi vurgulanmıştır.Öğe Erken Dönemde Tanı Alan Bir Fanconi-Bickel Sendromu Olgusu ve SLC2A2 Geninde Yeni Bir Mutasyon(Galenos Yayincilik, 2019) Çelikboya, Ezgi; Cansever, Mehmet Şerif; Zubarioglu, Tanyel; Yeşil, Gozde; Akıncı, NurverFanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syndrome in a patient who was diagnosed at 47 days of age with the findings of glycosuria, hyperglycemia and an elevated level of alkaline phosphatase (ALP). The diagnosis was confirmed by identification of a new mutation in SLC2A2 gene and metabolic control was provided by a galactose-restricted high protein diet. A 27-day-old female patient was admitted with glycosuria. It was observed that she did not gain enough weight, had fat cheeks and hepatomegaly. Biochemical investigations revealed transaminase and ALP elevation. Fasting plasma glucose level was normal whereas postprandial glucose level was 198 mg/dL Urinalysis revealed 1+ protein and 3+ glucose. In follow-up, hyperglycemia started to be more evident, the ALP level decreased, compensated metabolic acidosis developed and the diagnosis of Fanconi-Bickel syndrome was assumed at 47 days of age. Under nutrition and oral replacement therapies good metabolic control and weight gain could be achieved. Postprandial hyperglycemia and glycosuria are early diagnostic clues for Fanconi-Bickel syndrome. Awareness of early findings and initiation of galactose-restricted high protein diet may provide metabolic control and prevent late complications.Öğe İdrarda Orotik Asit'in Temassız İletkenlik Dedektörü Kullanılarak Kapiler Elektroforez Yöntemi İle Hızlı Tayini(2020) Cansever, Mehmet Şerif; Öztekin, Nevin; Adımcılar, Veselina; Zubarıoğlu, Tanyel; Kıykım, Ertuğrul; Aktuğlu Zeybek, Ayşe Çiğdemİdrarda orotik asidin aşırı atılımı üre döngüsü bozukluğu ve pirimidin sentez bozukluğu gibi doğumsal metabolik hastalıklarda görülür. Bu nedenle orotik asidin hızlı bir şekilde tayini hayati öneme sahiptir. Bu çalışmada idrar örneklerinde orotik asidin kantitatif düzeylerinin belirlenmesi için yeni, basit, ucuz ve hızlı bir kapiler elektroforetik analiz yöntemi geliştirildi. Orotik asidin temassız iletkenlik dedektörü (C4D) kullanılarak kapiler elektroforez yöntemi ile ayrımı için pH’ı 6,5 olan 20 mM 4-Morfolinetansülfonik asit (MES), 10 mM Histidin ve 0,1 mM setil trimetilamonyum bromür (CTAB) içeren bir ça-lışma tamponu ile geliştirildi. Orotik asidin ayrılması yaklaşık 3,5 dakika gibi kısa bir sürede tamamlandı. Göç zamanlarının ve düzeltilmiş pik alanlarının tekrarlanabilirliği sırasıyla %RSD olarak 1,25 ve 4,31 olarak bulundu. En düşük dedeksiyon limiti (LOD) 0,733 mg / L ve en düşük tayin limiti de (LOQ) 2,443 mg / L olarak bulundu. Metodun idrarda orotik asit düzeylerinin tayin edilmesinde kolaylıkla ve hassasiyetle kullanılabileceği gösterildi.Öğe Ion chromatographic method for the determination of orotic acid in urine(Academic Press Inc Elsevier Science, 2018) Destanoglu, Orhan; Zeydanli, Damla; Cansever, Mehmet Şerif; Yılmaz, Gülcin GumusExcess urinary orotic acid excretion occurs in patients with some inborn errors of metabolic pathways such as pyrimidine synthesis and urea cycle. Thus, rapid diagnosis of orotic aciduria has a vital importance for patients. In this paper, a novel method for determination of orotic acid in urine samples by ion chromatography with suppressed conductivity detection was investigated. The separation of orotic acid from urine matrix was accomplished by using an anion exchange column with optimized isocratic eluent program which utilized 50 mM NaOH. The other chromatographic conditions were as follows: the suppressor current was 31 mA; the flow rate of mobile phase was 0.25 mL min(-1); the column temperature was 30 degrees C; sample loop volume was 10 mu L. Under optimized conditions, the limit of detection was 0.2 mu mol L-1. Dramatically elevated orotic acid concentration was observed on pathological urine samples comparing to healthy urines, as expected. There are a good many advantages of the proposed method, but using an environmentally friendly reagent free system, no organic solvent employment and its quick nature, and being a sensitive and reliable method are the most obvious ones. The proposed method, therefore, may be utilized as an alternative technique for clinical laboratories.Öğe Rapid Determination of L-2-Hydoxyglutaric Acid in Urine Samples By Capillary Electrophoresis with Indirect Uv Detection(2020) Cansever, Mehmet Şerif; Kalaycıoğlu, Zeynep; Erim, Fatma Bedia; Zübarioğlu, Tanyel; Kıykım, Ertuğrul; Zeybek, Ayşe Çiğdem AktuğluAim: L-2-hydroxyglutaric aciduria (L2HGA) which is autosomal recessive and characterized by psychomotor retardation, cerebellarataxia, variable macrocephaly, and epilepsy is a rarely seen neurometabolic disease. The disease is biochemically identified by slightlyincreased L-2HGA levels in urine, cerebrospinal fluid, and plasma.Materials and Methods: A sensitive and rapid capillary electrophoretic technique was used for the determination of L2HGA in urine.Since the L2HGA lacks of chromophore, an indirect UV detection method was applied.Results: The running electrolyte consisted of 10 mmol/L 2,6-pyridinedicarboxylic acid (PDC) at pH 5.6 containing 0.1 mmol/L ofcetyltrimethylammonium bromide (CTAB). PDC was chosen because of its good chromophoric property for indirect UV detection. CTABwas used as electro-osmotic flow (EOF) reversal. The method was well-validated in the selected conditions. The detection limit of themethod L2HGA was 1.16 ?mol/L. The migration time of L2HGA was less than 2.0 min.Conclusion: The developed method was applied to the urine samples collected from 16 patients who suffer from L-2-hydroxyglutaricaciduria and 4 healthy volunteers.Öğe Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease(2024) Uçar, Tuğçe; Cansever, Mehmet Şerif; Cansever, Mehmet Şerif; Isat, Esra; Isat, Esra; Zubarioğlu, Tanyel; Zeybek, Ayşe Çiğdem AktuğluBackground: Fabry disease is characterized by the accumulation of globotriaosylceramide. Substrate accumulation in lysosomes is thought to trigger an inflammatory response and is responsible for progressive organ damage through the induction of autoimmunity. The levels of pteridine and kynurenine pathway metabolites increase when immune activation is observed and are employed to monitor several diseases and determine prognosis. Aims: To elucidate the effects of immune activation on the pathophysiology of Fabry disease and to investigate the potential utility of pteridine and kynurenine metabolites. Study Design: A prospective case-control study. Methods: In this study, 33 patients with Fabry disease and 33 ageand sex-matched healthy controls were included. Blood pteridine and kynurenine metabolites were studied in both groups. Organ involvement in Fabry disease and its correlation with the pteridine and kynurenine pathways were also investigated. Results: The patients’ neopterin and biopterin levels and the tryptophan/ kynurenine ratio were statistically higher than those of the healthy control group (p < 0.05). A statistically significant association was found between neopterin levels and hypertrophic cardiomyopathy, cardiac arrhythmias, and GFR values (p = 0.044, p = 0.021, and p = 0.030, respectively), tryptophan and corneal verticillate, hearing loss and tinnitus (p = 0.010, p = 0.009 and p = 0.046, respectively), and kynurenine levels and valvular heart disease (p = 0.020). Conclusion: From the onset of the disease, patients with Fabry disease exhibited elevated levels of inflammation and immune activation. Furthermore, inflammation and immune activation markers can be used as early disease biomarkers.Öğe Wolman Hastalığında Yeni Bir Mutasyon: Olgu Sunumu(2019) Cansever, Mehmet Şerif; Aslan, Mine; Zübarioğlu, TanyelWolman hastalığı kolesterol ester ve trigliseridlerin hidrolizinden sorumlu lizozomal asit lipaz (LAL) enzim aktivitesindeki kayıp sonucunda ortaya çıkar. Kusma, ishal, azalmış tartı alımı, hepatomegali ile karakterize olup erken süt çocukluğu döneminde ölümle sonuçlanır. Hastalığın kesin tanısı LIPA geninin moleküler analizi ile konulur. LIPA genine ait nokta mutasyonlar, insersiyon ve delesyonlar gibi farklı mutasyonlar bildirilmiş olup, Wolman hastalığında çerçeve kayma mutasyonları nadiren görülmektedir.Bu yazıda LIPA gen analizi ile Wolman hastalığının kesin tanısı konulan 18 günlük bir kız hasta sunulmuştur. Moleküler analiz sonucunda literatürde daha önce bildirilmemiş bir çerçeve kayma mutasyonu saptanmıştır.
