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Öğe 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients(Academic Press Inc Elsevier Science, 2017) Gruenert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrazova, Lenka; Balci, Mehmet Cihan; Bischof, Felix; Coker, Mahmut; Das, Anibh M.; Demirkol, Muebeccel; de Vries, Maaike; Goekcay, Gulden; Haeberle, Johannes; Ucar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Luecke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, Rene; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A.; Sass, Joern Oliver3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected clinical and biochemical data as well as information on HMGCL mutations of 37 patients (35 families) from metabolic centers in Belgium, Germany, The Netherlands, Switzerland, and Turkey. All patients were symptomatic at some stage with 94% presenting with an acute metabolic decompensation. In 50% of the patients, the disorder manifested neonatally, mostly within the first days of life. Only 8% of patients presented after one year of age. Six patients died prior to data collection. Long-term neurological complications were common. Half of the patients had a normal cognitive development while the remainder showed psychomotor deficits. We identified seven novel HMGCL mutations. In agreement with previous reports, no clear genotype phenotype correlation could be found. This is the largest cohort of HMGCLD patients reported so far, demonstrating that HMGCLD is a potentially life-threatening disease with variable clinical outcome. Our findings suggest that the clinical course of HMGCLD cannot be predicted accurately from HMGCL genotype. The overall outcome in HMGCLD appears limited, thus rendering early diagnosis and strict avoidance of metabolic crises important. (C) 2017 Elsevier Inc. All rights reserved.Öğe Alpha-Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients(Wiley, 2012) Ucar, Sema Kalkan; Sozmen, Eser; Duman, Soner; Basci, Ali; Coker, MahmutFabry disease is an X-linked lysosomal storage disorder due to deficient activity of alpha-galactosidase A (alpha-Gal A) leading to renal insufficiency in males. The aim of present study was to investigate the level of alpha-Gal A activity and to determine the prevalence of Fabry disease in a Turkish male hemodialysis population. The activity of plasma alpha-Gal A was measured in a group of 808 male hemodialysis patients using fluorimetric methods. Patients with low alpha-Gal A activity were evaluated clinically and genetic testing was carried out. A correlation with creatinine, uric acid, urea, white blood cell (WBC), and high sensitivity (hs)CRP and alpha-Gal A activity was also investigated. Plasma a-Gal A activity among this male population undergoing hemodialysis was 7.88 +/- 5.18 mu M/hour/L (0.4055.72), significantly lower when compared to controls. No influence of creatinine, uric acid, WBC, or hsCRP on measured alpha-Gal A activity was reported. Two new Fabry disease patients were identified. Both were previously diagnosed with diabetes mellitus type 2. These findings provide, for the first time, data regarding the prevalence of alpha-Gal A deficiency (0.24%) in Turkish males receiving hemodialysis.Öğe Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population(Walter De Gruyter Gmbh, 2020) Onay, Huseyin; Bolat, Hilmi; Yildirim, Gonca Kilic; Kose, Engin; Ucar, Sema Kalkan; Asikovali, Semih; Coker, MahmutObjectives: Fabry disease (FD, OMIM #301500) is a rare and progressive X-linked lysosomal storage disorder. FD is caused by mutations in the GLA gene on chromosome Xq22. Methods: in this article, we aimed to present the largest sample of GLA mutation spectrum including common and novel variants in Turkish population. GLA gene sequence analysis was performed on the subjects who applied to the department of medical genetics with the preliminary diagnosis of FD between 2013 and 2018. Results: We detected 22 different mutations as two novel [(p.F69S(c.206T>C), p.P205A (c.613C>G)] and 20 previously reported GLA mutations in 47 individuals from 22 unrelated families. These mutations included 14 missense mutations, four nonsense mutations, two small deletions, one small deletion/insertion and one small insertion. Major clinical findings of the female case with p.F69S(c.206T>C) mutation were cornea verticillata, acroparesthesia, angiokeratoma, psychiatric and gastrointestinal symptoms. Other novel mutation (p.P205A [c.613C>G]) was carried by a male case presenting gastrointestinal symptoms. Conclusions: We described clinical findings of two cases that had novel mutations to provide more insight in genotype-phenotype correlation. We presented the largest mutation spectrum in Turkish population and reviewed previous mutations in this article.Öğe Biotinidase Deficiency: Prevalence, Impact and Management Strategies(Dove Medical Press Ltd, 2020) Canda, Ebru; Ucar, Sema Kalkan; Coker, MahmutBiotinidase deficiency is an autosomal recessive inherited neurocutaneous disorder. Clinically untreated patients with BD can present with variable neurological and dermatological signs, such as seizures, hypotonia, feeding problems, developmental delay, hearing loss, optic atrophy ataxia, alopecia, and skin rash. Clinical findings of patients with partial BD reported in the literature show that it can occur from infancy to adulthood. Outcomes of newborn screening programs support the fact that biotin treatment started after birth prevents patients with biotinidase deficiency from developing symptoms. Presence of late-onset cases with different clinical findings indicates that there is still much to learn about BD.Öğe Branched-Chain Aminoacidopathies: Our Experience in Ege University Faculty of Medicine(Galenos Yayincilik, 2016) Kose, Melis Demir; Canda, Ebru; Kagnici, Mehtap; Altinok, Yasemin Atik; Ucar, Sema Kalkan; Habif, Sara; Onay, Huseyin; Coker, MahmutAim: A group of metabolic diseases defined as "organic acidemia" is caused by enzyme dysfunctions in branched-chain amino acids, namely valine, leucine and isoleucine metabolism. The most commonly seen diseases in this group are maple syrup urine disease (MSUD), isovaleric acidemia (IVA) and methyl malonic acidemia (MMA). The purpose of our study is to demonstrate the effect of clinical presentations and alterations during follow-up on progression of the disease. Materials and Methods: We evaluated retrospectively the demographical, clinical and laboratory charasteristics of the patients with MSUD, IVA, propionic asiduri and MMA who had been followed-up in Ege University Faculty of Medicine, Department of Child Health and Diseases, Pediatric Metabolism and Nutrition Division. Results: A total of 47 patients who were followed-up between 2005-2015 were included in our evaluation. Twenty-one patients were diagnosed with MMA, 17 with MSUD, 5 with propionic asiduri and four with IVA. Mean follow-up period was 6.31 +/- 4.3 years. Nineteen patients were diagnosed during neonatal period, 10 in the first six months of life, 6 in the 6-12 month period and 12 after the patients first birthday. Thirteen patients underwent dialysis. Chronic renal failure was observed in one patient with MMA. One patient with MMA underwent liver transplantation due to liver failure. Twenty-one patients had neuromotor retardation. Three patients died. Conclusion: Branched chain aminoacidopathies require integrated management of general medical care and nutrition. The acute metabolic decompensation and neurological deterioration attribute to severe sequelae. The age of diagnosis and subsequent metabolic control are the most important determinants of long-term prognosis.Öğe Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey(Biomed Central Ltd, 2014) Hendriksz, Christian J.; Lavery, Christine; Coker, Mahmut; Ucar, Sema Kalkan; Jain, Mohit; Bell, Lisa; Lampe, ChristinaBackground: Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL). Methods: This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (>= 18 years, N = 27) and children (7- 17 years, N = 36), including the impact on mobility, QoL, pain and fatigue. QoL was assessed using the general Health-Related Quality of Life (HRQoL) questionnaire (the EuroQol [EQ]-5D-5L). Pain and pain interference with daily activities were assessed using the Brief Pain Inventory Short Form (BPI-SF) in adults and the Adolescent Pediatric Pain Tool (APPT) in children. Fatigue was assessed by questioning the patients on the number of evenings in a week they felt extremely tired. Results: The clinical data showed a wide heterogeneity in clinical manifestations between patients, with the majority of patients showing differing levels of endurance, short stature, bone and joint abnormalities, abnormal gait and eye problems. Mobility was considerably impaired: 44.4% of children and 85.2% of adult patients were using a wheelchair. High wheelchair reliance significantly reduced QoL. This was mainly driven by reduced scores in the Mobility, Self-care, and Usual Activity domains. The HRQoL utility values were 0.846, 0.582 and 0.057 respectively in adults not using a wheelchair, using a wheelchair only when needed and always using a wheelchair; values were 0.534, 0.664 and -0.180 respectively in children. Employed adult patients had a better HRQoL than unemployed patients (HRQoL utility value 0.640 vs. 0.275, respectively). 64% of children and 74% of adult patients had joint pain; fatigue was reported by 69% of children and 63% of adults. Overall, increased mobility was associated with more severe and widespread pain and more fatigue. Conclusions: The HRQoL of Morquio A patients is mainly driven by the ability to remain independently mobile without becoming wheelchair dependent. Their QoL reduces dramatically if they always have to use their wheelchair. Even a slightly better mobility (wheelchair use only when needed) greatly improves QoL. Maintenance of functional capacity and mobility paired with better pain management are likely to improve QoL.Öğe Can cathepsin-D and galectin-3 be new inflammation biomarkers in detection of lysosomal diseases?(Academic Press Inc Elsevier Science, 2015) Ergun, Pelin; Kagnici, Mehtap; Ucar, Sema Kalkan; Coker, Mahmut; Akcay, Yasemin Delen; Sozmen, Eser YildirimÖğe Chitotriosidase as a possible marker of clinically evidenced atherosclerosis in dyslipidemic children(Walter De Gruyter Gmbh, 2014) Kologlu, Turan; Ucar, Sema Kalkan; Levent, Erturk; Akcay, Yasemin Delen; Coker, Mahmut; Sozmen, Eser YildirimA correlation has been clearly shown between inflammation markers and subclinical atherosclerosis markers in the early stages of atherogenesis in subjects with familial hypercholesterolemia (FH). The aim of this study was to investigate potential inflammation markers in the diagnosis of atherosclerosis in children with FH. A total of 48 dyslipidemic children and 24 healthy age-matched control subjects were taken into study. Inflammation and macrophage activation markers (hsCRP, myeloperoxidase, chitotriosidase, YKL-40, TNF-alpha, IL-6, IL-18, MMP-1 and MMP-9) and lipid parameters of all patients were measured. Carotid intima-media thickness (cIMT) and flow-mediated dilation (FMD) levels were determined. Our data suggested that clinically evidenced (by cIMT and FMD levels) atherosclerosis starts in the early ages in hypercholesterolemic children. Higher cholesterol levels strongly correlated with macrophage activation markers (ChT, YKL-40 and myeloperoxidase). ChT and YKL-40 seem to be the more predictable markers of atherosclerosis even in early ages (<6 years old) than other classical inflammation markers such as hs-CRP, IL-6 and TNF-alpha.Öğe Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)(Galenos Yayincilik, 2016) Er, Esra; Canda, Ebru; Ucar, Sema Kalkan; Sozmen, Eser; Coker, MahmutAim: Mucopolysaccharidosis (MPS) type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity vary. We evaluated clinical, laboratory and follow-up findings of 11 patients diagnosed with MPS type VI between the years 1996-2016 by the Ege University Faculty of Medicine, Department of Pediatrics, Child Health and Disease, Division of Metabolism and Nutrition to raise awareness in clinicians. Materials and Methods: Eleven patients with MPS type VI between the years1996-2016 were evaluated by the Ege University Faculty of Medicine, Department of Pediatrics, Child Health and Disease Division of Metabolism and Nutrition. We analyzed the diagnostic, clinical, laboratory and follow-up findings of the patients. Results: Eleven patients (55% male) were evaluated. The mean age was 5.38 years at diagnosis. The most common presenting symptoms were progressive coarsening of the face (82%), reccurent upper respiratory tract disorders (27%) and bone deformities (27%). All patients had mitral regurgitation, 27% had aortic regurgitation, 9% had tricuspid regurgitation and only one patient had pulmonary hypertension. Two patients, who could not be treated, had severe cardiac and obstructive type pulmonary disorders. Enzyme replacement therapy (galsulfase) has been performed in various durations since 2006. Conclusion: Early diagnosis of MPS VI is imperative due to the availability of galsulfase shown to slow the progression of the disease with a more significant impact on clinical outcomes when the the treatment is initiated early.Öğe Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey(Galenos Yayincilik, 2018) Yazici, Havva; Er, Esra; Canda, Ebru; Habif, Sara; Ucar, Sema Kalkan; Coker, 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)-1-1,3-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 3.71 +/- 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(Galenos Yayincilik, 2018) Canda, Ebru; Yazici, Havva; Er, Esra; Eraslan, Cenk; Ucar, Sema Kalkan; Coker, 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 presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency(Academic Press Inc Elsevier Science, 2017) Gruenert, Sarah Catharina; Schmitt, Robert Niklas; Schlatter, Sonja Marina; Gemperle-Britschgi, Corinne; Balci, Mehmet Cihan; Berg, Volker; Coker, Mahmut; Das, Anibh M.; Demirkol, Mulbeccel; Derks, Terry G. J.; Gokcay, Gulden; Ucar, Sema Kalkan; Konstantopoulou, Vassiliki; Korenke, G. Christoph; Lotz-Havla, Amelie Sophia; Schlune, Andrea; Staufner, Christian; Iran, Christel; Visser, Gepke; Schwab, Karl Otfried; Fukao, Toshiyuki; Sass, Joern Oliver2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic ketoacidosis. In order to obtain a more comprehensive view on this disease, we have collected clinical and biochemical data as well as information on ACAT1 mutations of 32 patients from 12 metabolic centers in five countries. Patients were between 23 months and 27 years old, more than half of them were offspring of a consanguineous union. 63% of the study participants presented with a metabolic decompensation while most others were identified via newborn screening or family studies. In symptomatic patients, age at manifestation ranged between 5 months and 6.8 years. Only 7% developed a major mental disability while the vast majority was cognitively normal. More than one third of the identified mutations in ACAT1 are intronic mutations which are expected to disturb splicing. We identified several novel mutations but, in agreement with previous reports, no clear genotype-phenotype correlation could be found. Our study underlines that the prognosis in MAT deficiency is good and MAT deficient individuals may remain asymptomatic, if diagnosed early and preventive measures are applied. (C) 2017 Elsevier Inc. All rights reserved.Öğe Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey(Galenos Yayincilik, 2018) Yazici, Havva; Canda, Ebru; Er, Esra; Ucar, Sema Kalkan; Onay, Huseyin; Özkınay, Ferda; Coker, 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, macrocephalyand 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(Galenos Yayincilik, 2018) Canda, Ebru; Kose, Melis; Yazici, Havva; Er, Esra; Eraslan, Cenk; Ucar, Sema Kalkan; Habif, Sara; Karaca, Emin; Onay, Huseyin; Özkınay, Ferda; Coker, MahmutAim: 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 ware eight patients with L2HGA. Their median age was 16(9.5-37) years. Five of them ware 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 R2820, 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 Coexistence of Gaucher Disease and severe congenital neutropenia(Academic Press Inc Elsevier Science, 2019) Kose, Melis Demir; Canda, Ebru; Kagnici, Mehtap; Ucar, Sema Kalkan; Onay, Huseyin; Sozmen, Eser Yildirim; Karapinar, Deniz; Özkınay, Ferda; Coker, MahmutGaucher Disease (GD) is the most common lysosomal storage disorder has traditionally been classified into three clinical phenotypes. Type 3 GD is characterized by neurological involvement but neurological symptoms generally appear later in life than in type 2 disease. Neutropenia is much rarer than other hematological manifestations in GD and has not been scrutinized adequately. Severe congenital neutropenia (SCN) is a rare disease entity which is characterized by a paucity of peripherally circulating neutrophils with arrest of neutrophil maturation at the promyelocyte stage and consequent increased susceptibility to severe and recurrent infections. We report a patient who presented in the first year of life with visceral involvement and severe neutropenia in whom the propositus had a unique coexistence of Gaucher Disease and severe congenital neutropenia associated with a mutation in HAX1. In contrast to his expired siblings he had experienced no severe infections. These clinical observations suggest that enzyme replacement therapy may display a modulating factor with respect to the clinical course of SCN. Synopsis: Our patient is the only report of the combination of Gaucher Disease and Kostmann Syndrome in the literature. The clinical course of our patient is not severe when comparing with exitus siblings and other Kostmann Syndrome patients. But when considering the patient's only clinical difference is ERT, this case is very important to emphasise the role of enzyme replacement therapy in bone marrow.Öğe A cross-sectional, mono-centric pilot study of insulin resistance in enzyme replacement therapy patients with Gaucher type I without overweight(Academic Press Inc Elsevier Science, 2009) Ucar, Sema Kalkan; Coker, Mahmut; Argin, Mehmet; Akman, Sezin; Kara, Sinan; Simsek, Damla Goksen; Darcan, SukranInsulin resistance have been demonstrated in untreated patients with Gaucher type I disease. It was implied in overweight enzyme replacement therapy (ERT) treated patients with Gaucher type I disease. In present study we investigate whether insulin resistance is presented in fourteen ERT treated patients with Gaucher type I disease and without overweight in comparison to normal subjects. This work illustrates the presence of insulin resistance in non-overweight ERT treated patients with Gaucher type I disease. (C) 2008 Elsevier Inc. All rights reserved.Öğe The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population(Walter De Gruyter Gmbh, 2020) Canbay, Erhan; Vural, Melisa; Ucar, Sema Kalkan; Sezer, Ebru Demirel; Karasoy, Hatice; Yuceyar, Ayse Nur; Sozmen, Eser YildirimBackground: Recently, urinary excretion of the tetrasaccharide 6-alpha-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantileand late-onset Pompe patients in the Turkish population. Methods: in this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0-64 years) were included. Urine Glc4 concentrations were determined using the ultra-high-performance liquid chromatography (UHPLC) tandem mass spectrometry (MS/MS) method. Results: Our data showed that the urine tetrasaccharide levels decreased with age in healthy individuals (p < 0.001, r = -0.256). It was higher especially during the first year of life compared to that in the elder subjects. the tetrasaccharide level of Pompe patients was higher compared to that of healthy controls of the same age: 99 +/- 68 mmol/mol creatinine for infantile onset vs. 4.0 +/- 3.0 mmol/mol creatinine for healthy controls of the same age group and 12.1 +/- 17.4 mmol/mol creatinine for late onset vs. 1.7 +/- 1.2 mmol/mol creatinine for healthy controls of the same age group. Conclusions: the results of this study showed that the reference intervals of tetrasaccharide in urine changed over time; therefore, it is critically important to define agebased decision levels for the diagnosis of LOPD.Öğe Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels(Amer Chemical Soc, 2024) Canbay, Erhan; Sezer, Ebru; Canda, Ebru; Yazici, Havva; Ucar, Sema Kalkan; Coker, Mahmut; Sozmen, Eser YildirimGalactosemia is an inherited disease that occurs as a result of insufficient or no synthesis of some enzymes (GALT, GALK, and GALE) in galactose metabolism. Failure to make an early diagnosis, especially in newborns, can lead to severe clinical and even fatal consequences. The aim of this study is to develop a biosensor for measuring free galactose in plasma. The immobilization components of the developed free galactose biosensor are screen printed carbon electrode (SCPE), Prussian blue (PB), chitosan (CHIT), Nafion (NAF), gold nanoparticle (GNP), and galactose oxidase (GaOX). The CHIT/GaOX/NAF-GNP/GaOX/CHIT-GNP/SCPE-PB electrode showed a sensitive amperometric response to detect galactose. While the surface characterization of the biosensor was performed with cyclic voltammetry and scanning electron microscopy, the optimization and performance characterizations were made by applying an amperometry technique. The amperometric operating potential for the free galactose biosensor was determined as -0.05 V. The linear detection range for the free galactose biosensor is between 0.025 and 10 mM. This range includes galactose levels in plasma of both healthy and patients. The percent coefficient of variation values calculated for intraday and interday repeatability of the developed biosensor are below 10%. The practical use of the biosensor, for which optimization and characterization studies were carried out, was tested in 10 healthy 11 patients with galactosemia, and the results were compared with the colorimetric method. In conclusion, the unique analytical properties and effortless preparation of the new galactose biosensor developed in this study make them serious candidates for point-of-care diagnostic testing.Öğe Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia(Wiley, 2012) Terek, Demet; Koroglu, Ozge Altun; Gunes, Sezgin; Yalaz, Mehmet; Akisu, Mete; Ucar, Sema Kalkan; Gokben, Sarenur; Coker, Mahmut; Kultursay, NilgunNon-ketotic hyperglycinemia (NKH) is a rare autosomal recessive disorder of glycine metabolism. We report a newborn case of NKH and discuss the effects of this rare disease on brain metabolism and structure together with amplitude-integrated electroencephalography, cranial magnetic resonance and magnetic resonance spectroscopy findings which are very rarely reported together so far.Öğe Editorial(Galenos Yayincilik, 2018) Ucar, Sema Kalkan
