Person: ERDÖL, ŞAHİN
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ERDÖL
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ŞAHİN
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Publication Alkaptonuria in turkey: Clinical and molecular characteristics of 66 patients(Elsevier, 2021-03-14) Kısa, Pelin Teke; Gündüz, Mehmet; Dorum, Sevil; Uzun, Özlem Ünal; Çakar, Nafiye Emel; Yıldırım, Gonca Kılıç; Erdöl, Şahin; Hışmi, Burcu Öztürk; Tuğsal, Handan Yarkan; Uçar, Ülkü; Görükmez, Özlem; Gülten, Zümrüt Arslan; Küçükçongar, Aynur; Bülbül, Selda; Sarı, İsmail; Arslan, Nur; ERDÖL, ŞAHİN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Metabolizma ve Beslenme Anabilim Dalı,; HSF-7083-2023Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, which in turn leads to multisystemic clinical symptoms. The present study aimed to investigate the presenting symptoms, age at diagnosis, and clinical and genetic characteristics of AKU patients followed-up in different centers in Turkey. In this cross-sectional, multicenter, descriptive study, medical records of 66 AKU patients were retrospectively evaluated. Patients? data regarding demographic, clinical and genetic characteristics were recorded. HGD database (http://hgddatabase.cvtisr.sk/) was used to identify HGD gene variants. Of the patients, 37 (56.1%) presented with isolated dark urine and 29 (43.9%) were diagnosed based on the clinical symptoms or family screening. One of these patients was on follow-up for 2 years due to Parkinsonism and was diagnosed with AKU on further analyses. Signs of ochronosis such as joint pain, low back pain and renal stones developed in childhood in 7 patients. Eight patients were diagnosed with depression via psychiatric evaluation. There were 14 (21.2%) patients operated on for ochronosis. The most frequent mutation observed in the patients was c.175delA, which was followed by c.674G > A and c.1007-2A > T mutations. Four novel mutations (c.189G > A, c.549+1G > T, c.1188+1G > A, and c.334 T > G) were identified in the patients included in the study. In addition to the known signs such as dark urine and skin pigmentation, symptoms involving different systems such as neurological findings and depression can also be encountered in AKU patients. The presence of a change in urine color needs to be questioned in patients presenting with different symptoms such as arthralgia/arthritis, renal stones or low-back pain, particularly in childhood, when skin ochronosis is not pronounced, and further examination should be performed.Publication Evaluation of patients with phenylalanine metabolism disorder: A single center experience(Walter De Gruyter Gmbh, 2022-01-27) Erdöl, Şahin; Bilgin, Hüseyin; ERDÖL, ŞAHİN; BİLGİN, HÜSEYİN; Uludağ Üniversitesi/ Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı; 0000-0002-5946-7356; JMQ-9930-2023; HSF-7083-2023Aim The aim is to evaluate the clinical, demographic and laboratory data of the patients we followed up with phenylalanine metabolism disorder. Materials and methods In this study, patients with phenylalanine metabolism disorder who applied to Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Pediatric Metabolism Department between 2011 and 2021 were retrospectively examined. The files of 397 patients who were followed up in our pediatric metabolism outpatient clinic and were found to have phenylalanine metabolism disorder by plasma phenylalanine level and molecular genetic analysis were evaluated. Results According to the highest plasma phenylalanine levels at admission, mild hyperphenylalaninemia phenotype constituted the largest group of 397 patients with 282 cases (71.1%), while the least common phenotype was malignant phenylketonuria (BH4 metabolism disorder) with four patients (1.0%). The number of patients with classical phenylketonuria was 90 (22.6%). 61 (62.8%) of 97 phenylalanine metabolism disorder cases who underwent BH4 loading test had a response. The mean phenylalanine level of the patients was 3.62 +/- 1.31 mg/dL in mild hyperphenylalaninemia, 7.98 +/- 3.99 mg/dL in mild phenylketonuria and 11.71 +/- 4.39 mg/dL in classical phenylketonuria. While 241 (76%) of 317 patients younger than 8 years old were in the well-controlled group, 76 (24%) were in the poorly-controlled group. While 41 (53.9%) of 76 patients older than 8 years of age were in the well-controlled group, 35 (46.1%) were in the poorly-controlled group. Conclusions In our study, the largest patient group consisted of patients with mild hyperphenylalaninemia, and the least common phenotype was mild phenylketonuria.Publication Comparison of plasmapheresis with medical apheresis in terms of efficacy and cost in the acute treatment of hypertriglyceridemia in children with(Walter, 2021-11-01) Erdöl, Şahin; Bilgin, Hüseyin; Sağlam, Halil; ERDÖL, ŞAHİN; BİLGİN, HÜSEYİN; SAĞLAM, HALİL; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı/Metabolizma Bilim Dalı; 0000-0002-6598-8262; GLN-8241-2022; JMQ-9930-2023; HSF-7083-2023Objectives: We aimed to compare plasmapheresis and medical apheresis as lipid-lowering therapies in children with familial lipoprotein lipase (LPL) deficiency. Methods: The data of 13 patients who were followed up after a diagnosis of LPL deficiency were retrospectively analyzed. Plasma triglyceride, cholesterol, amylase, and lipase values and complications were recorded before and after each patient underwent plasmapheresis or medical apheresis. Results: The mean follow-up period of the patients was 99.64 +/- 52.92 months in the medical apheresis group and 118 +/- 16.97 months in the plasmapheresis group. While the mean triglyceride level before plasmapheresis was 1,875.38 +/- 547.46 mg/dL, it was 617 +/- 228.28 mg/dL after plasmapheresis. While the mean triglyceride level before medical apheresis was 1,756.86 +/- 749.27 mg/dL, it was found to be 623.03 +/- 51.36 mg/dL after medical apheresis. Triglyceride levels were decreased by 59.62% with medical apheresis and 65.57% with plasmapheresis. The cost of treatment for medical apheresis was found to be lower compared to plasmapheresis 296.93 +/- 29.94 Turkish lira (USD 43.34 +/- 4.01) vs. 3,845.42 +/- 156.17 Turkish lira (USD 561.37 +/- 20.93; p<0.001). Conclusions: Although there is no standardized strategy for the acute treatment of hypertriglyceridemia due to LPL deficiency, medical apheresis is a safe and effective treatment with a low risk of side effects. Unlike plasmapheresis, medical apheresis can be performed in any center, which is another important advantage of the procedure. A greater catabolism. diabetes, tions gene the titis, xhantoms acute zil, familial and these there treatment. tingPublication Acrodermatitis dysmetabolica with argininosuccinate lyase deficiency(Scientific Scholar Llc, 2023-11-01) Öztürk, Ferdi; ÖZTÜRK, FERDİ; SARICAOĞLU, HAYRİYE; Ünlü, Cansu Irmak; ÜNLÜ, CANSU IRMAK; Sarıcaoğlu, Hayriye; Aydoğan, Kenan; AYDOĞAN, KENAN; Erdöl, Şahin; ERDÖL, ŞAHİN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Dermatoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; G-2588-2013Publication An important public health problem: Vitamin b12 deficiency(Galenos Yayıncılık, 2017-08-01) Erdöl, Şahin; ERDÖL, ŞAHİN; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı; HSF-7083-2023Introduction: We observed increased methylmalonic acid (MMA) excretion in urine in some cases referred to the centre by the Ministry of Health on suspicion of phenylketonuria and biotinidase deficiency detected by newborn screening. The etiology of increased urine MMA in almost all patients was vitamin B12 deficiency. Because vitamin B12 deficiency could cause severe neurological damage, we need to report its frequency for the cases referred to the outpatient clinic in this study. In addition, the previous studies on vitamin B12 deficiency mostly represent the cases with hematological findings and there is not enough research concerning infants with no complaints considered healthy by their families. Therefore, we also aimed to determine serum normal lower limit of vitamin B12 in this study.Methods: The study group consisted of 215 infants who had been tested for serum B12 level during the first 4 months of life out of 335 cases referred to the centre from June 2011 to June 2016 as a part of the screening program put in place by the Ministry of Health.Results: Vitamin B12 deficiency was determined in 48.8 % of the cases. Mean plasma homocystein, C3-carnitine, and urine MMA was significantly higher in patients with vitamin B12 deficiency. Lower limit of normal vitamin B12 in serum that did not cause elevation of serum homocystein was found 257 pg/mL, and the limit that did not cause elevation of urine MMA was 219 pg/mL.Discussion and Conclusion: Vitamin B12 deficiency may only manifest itself with neurological symptoms without any hematological findings, and some of those symptoms may be irreversible even after vitamin B12 supplementation. In populations with poor socioeconomic status such as ours, where B12 deficiency is common, women in childbearing age should be supported with vitamin B12 in cases of deficiency before pregnancy.Publication Novel mutation of the electron transferring flavoprotein dehydrogenase (ETFDH) gene in the isolated myopathic form of coenzyme q10 deficiency(Medecine Et Hygiene, 2015-01-01) Görükmez, O.; Görükmez, Orhan; Sağ, Şebnem Özemri; Erdöl, Şahin; Sağlam, Halil; Yakut, T.; Görükmez, Orhan; ÖZEMRİ SAĞ, ŞEBNEM; ERDÖL, ŞAHİN; SAĞLAM, HALİL; Yakut, T.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Bölümü; 0000-0002-9241-0896; 0000-0002-9241-0896; 0000-0002-6598-8262; GLN-8241-2022; AFZ-0764-2022; AAH-8355-2021; C-7392-2019Publication Clinical characteristics and journey to diagnosis in patients with mucopolysaccharidosis type VII(Academic Press Inc Elsevier Science, 2021-02-01) Sivri, Hatice Serap; Erdöl, Şahin; ERDÖL, ŞAHİNPublication Propionic acidemia: Case report(Galenos Yayincilik, 2007-06-01) SAĞLAM, HALİL; Kamber, Kadri; ERDÖL, ŞAHİN; Erdöl, Şahin; Karalı, Yasin; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0003-0710-5422; 0000-0002-6598-8262; C-7392-2019; GLN-8241-2022A three and a half-month-old boy was referred to us to be investigated due to pancytopenia. He had vomiting, lethargy and failure to thrive. It was reported that seventy two hours after an uneventful labor, he developed feeding difficulty, vomiting, hypotonia and lethargy; and he was hospitalized with an initial diagnosis of neonatal sepsis for 15 days. There was second degree consanguinity between his parents.On physical examination; he was hypotonic, lethargic, and tachypneic with a slight hepatomegaly of 2 cm. Neonatal reflexes were absent. During follow-up, he developed persistent myoclonic convulsions and metabolic acidosis. Quantitative plasma and cerebrospinal fluid glycine levels were increased. On tandem mass spectrometric study, C3-propionyl carnitin level was increased. Urine organic acid analysis revealed increased 3-OH propionic acid, 3-OH butyric acid, and propionylglycine levels. He was diagnosed as propionic acidemia and a protein restricted diet with oral L-carnitine and biotin supplementations were started.In our country, where the prevalence of consanguineous marriages is very high, inborn errors of metabolism should be strongly considered in all of those full term neonates and children who develop hypotonia, convulsions, lethargy and failure to thrive after an uneventful labor, as well as in those developing signs and symptoms of neonatal sepsis without any risk factors both in the baby and in the mother.