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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, 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 Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family(Elsevier Sci Ltd, 2020) Bilgic, Dilek Gun; Celebi, Hamide Betul Gerik; Gumus, Aydeniz Aydin; Bilgic, Abdulkadir; Yazici, Havva; Ceylaner, Serdar; Cam, Fethi SirriMucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene. Clinical features are progressive spasticity and weakness in the lower limbs and corpus callosum agenesis. We report on two siblings in a consanguineous family, presenting both the clinical and molecular diagnoses of MPSIIIB and SPG54 with novel mutations by using whole exome sequencing (WES). This interesting finding shows that we should be aware of the importance of using WES for diagnosing rare diseases in consanguineous families. (C) 2020 Elsevier Ltd. All rights reserved.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 An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis(Galenos Yayincilik, 2018) Er, Esra; Canda, Ebru; Yazici, Havva; Eraslan, Cenk; Sozmen, Eser; Ucar, Sema Kalkan; Coker, 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 determimng the level of serum beta-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 38% 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, beta-hexosaminidase activity in serum and genetic mutation analysis should be undertaken in suspected cases. Curative gene therapy may be available in the future.Öğe Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma(Wiley, 2024) Cetinarslan, Tubanur; Yazici, Havva; Erdogan, Kadri Murat; Ucar, Sema Kalkan; Dalgic, Goksu; Kaya, Gizem; Er, EsraChanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform erythroderma, however erythrokeratoderma-like findings have been rarely reported in CDS patients. Herein, we report clinical, histopathological and genetic findings of four patients with CDS presenting with different clinical forms of erythrokeratoderma (three with progressive symmetric erythrokeratoderma-like features and one with erythrokeratoderma variabilis (EKV)-like features), including one patient with a novel mutation in ABHD5. Although the typical skin finding of CDS syndrome is reported as non-bullous congenital ichthyosiform erythroderma, CDS should also be in the differential diagnosis in patients with EKV-like lesions.Öğe Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis(Galenos Yayincilik, 2018) Canda, Ebru; Yazici, Havva; Er, Esra; Eraslan, Cenk; Altinok, Yasemin Atik; Serin, Hepsen Mine; Habif, Sara; Serdaroglu, Gul; Ucar, Sema Kalkan; Onay, Huseyin; Özkınay, Ferda; Coker, MahmutGlutaric aciduria Type 1 (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-year-old girl with hypotonia and dystonia diagnosed with GA-I although the repeated analysis of the carnitine profile and organic acid analyses were normal. The patient has motor, mental retardation, hypotonia. Her weight standard deviation score (SDS) was -1.86 SDS, height SDS was -0.55 SDS, head circumference SDS was -1.01. The physical examination was normal except severe hypotonia. Spot blood carnitine profile, blood amino acid, urine organic acid, lactic acid and pyruvic acid were normal in repeated analysis. Dystonia and spastic tetraparesis developed on her follow-up. Cranial magnetic resonance imaging revealed bilateral cortical atrophy and bilateral striatal and caudate nucleus T2 flair hyperintensities. In GCDH gene analysis p.Y123C (c.368A > G)/p.L340F (c.368A > G) mutation was found. There was no history of encephalopathy. The patient treated with levodopa and trihexyphenidyl and lysine-restricted diet. In the presence of bilateral striatal involvement and cortical atrophy and dystonia, GA-I should be kept in mind. Blood carnitine profile and urine organic acid analyses may not be consistent. It is important to evaluate the cases for genetic investigation.Öğe Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine(Galenos Publ House, 2022) Celik, Merve Yoldas; Canda, Ebru; Yazici, Havva; Erdem, Fehime; Ucar, Sema Kalkan; Coker, MahmutAim: During the coronavirus disease-2019 (COVID-19) pandemic, visiting the hospital and getting regular infusions can be difficult for patients with chronic illnesses. Telemedicine may offer a good option for the management of chronic diseases such as lysosomal storage diseases (LSD). Materials and Methods: LSD patients at the Unit of Metabolic Diseases of Ege University were contacted by phone between April, 2020 and March, 2021 during the COVID-19 pandemic. Telemedicine appointments were performed at intervals every month or three months, depending on the patients' compliance with their treatment. Results: Ninety-two LSD patients [Mucopolysaccharidosis (MPS) I, MPS II, MPS IVA, MPS VI, MPS VII, Gaucher, Fabry, and Pompe] were included in this study. The total skipped treatment rate within one year was 17.1%. Most of the months of interruption were consonant with the time of social isolation. The treatment interruption in patients under 18 years was lower than in patients over 18 years. A positive correlation was detected between the age of patients and the interruption of treatment. Conclusion: The curfew periods might be one of the causes of missed treatment sessions. Telemedicine is a good method to improve the continuity of treatment. This study showed that the number of interrupted enzyme replacement treatments could be decreased via ongoingÖğe Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience(Galenos Yayincilik, 2018) Canda, Ebru; Yazici, Havva; Er, Esra; Ucar, Sema Kalkan; Onay, Huseyin; Sozmen, Eser; Özkınay, Ferda; Coker, 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 non-neuronopathic disease presents visceral form and sufferers usually survive into adulthood. Materials and Methods: Here we present clinical and molecular findings for 19 patients with NPO 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-14years). 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 Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency(Elsevier Sci Ltd, 2024) Celik, Merve Yoldas; Canda, Ebru; Yazici, Havva; Erdem, Fehime; Yanbolu, Ayse Yuksel; Altinok, Yasemin Atik; Pariltay, ErhanBackground and aim: APO CII, one of several cofactors which regulate lipoprotein lipase enzyme activity, plays an essential role in lipid metabolism. Deficiency of APO CII is an ultra-rare autosomal recessive cause of familial chylomicronemia syndrome. We present the long-term clinical outcomes of 12 children with APO CII deficiency. Methods and results: The data of children with genetically confirmed APO CII deficiency were evaluated retrospectively. Twelve children (8 females) with a mean follow-up of 10.1 years (+3.9) were included. At diagnosis, the median age was 60 days (13 days-10 years). Initial clinical findings included lipemic serum (41.6%), abdominal pain (41.6%), and vomiting (16.6%). At presentation, the median triglyceride (TG) value was 4341 mg/dL (range 1277-14,110). All patients were treated with a restricted fat diet, medium-chain triglyceride (MCT), and omega-3-fatty acids. In addition, seven patients (58.3%) received fibrate. Fibrate was discontinued in two patients due to rhabdomyolysis and in one patient because of cholelithiasis. Seven (58.3%) patients experienced pancreatitis during the follow-up period. One female experienced recurrent pancreatitis and was treated with fresh frozen plasma (FFP). Conclusions: Apo CII deficiency is an ultra-rare autosomal recessive condition of hypertriglyceridemia associated with significant morbidity and mortality. Low-fat diet and MCT supplementation are the mainstays of therapy, while the benefit of TG-lowering agents are less well-defined. (c) 2024 The Italian Diabetes Society, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.Öğe Long-term follow-up of alkaptonuria patients: single center experience(Walter De Gruyter Gmbh, 2022) Bozaci, Ayse Ergul; Yazici, Havva; Canda, Ebru; Ucar, Sema Kalkan; Guvenc, Merve Saka; Berdeli, Afig; Habif, SaraObjectives Alkaptonuria is a rare autosomal recessive genetic disorder resulting from the deficiency of homogentisate 1,2 dioxygenase (HGD), the third enzyme in the tyrosine degradation pathway. Homogentisic acid produced in excess oxidizes into ochronotic pigment polymer. Accumulation of this pigment in various tissues leads to systemic disease. Methods Clinical, laboratory, molecular findings and treatment characteristics of 35 patients followed up in Ege University Pediatric Nutrition, and Metabolism Department with the diagnosis of alkaptonuria were evaluated retrospectively. Results Twenty-four males (68.57%) and 11 females (31.42%) with a confirmed diagnosis of alkaptonuria from 32 different families were included in the study. We identified 11 different genetic variants; six of these were novel. c.1033C>T, c.676G>A, c.664G>A, c.731_734del, c.1009G>T, c.859_862delins ATAC were not previously reported in the literature. 24 (68.57%) patients only adhered to a low-protein diet in our study group. Seven (20%) patients initiated a low protein diet and NTBC therapy. Mean urinary HGA decreased by 88.7% with nitisinone. No statistical changes were detected in urinary HGA excretion with the low protein diet group. Conclusions In our study, alkaptonuria patients were diagnosed at different ages, from infancy to adulthood, and progressed with other systemic involvement in the follow-up. Since the initial period is asymptomatic, giving potentially effective treatment from an early age is under discussion. Raising disease awareness is very important in reducing disease mortality and morbidity rates.Öğe Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance(Wiley, 2024) Ucar, Sema Kalkan; Altinok, Yasemin Atik; Mansuroglu, Yelda; Canda, Ebru; Yazici, Havva; Celik, Merve Yoldas; Erdem, FehimeDietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a personalized diet high in protein and fat for 24 months. Of 31 patients with type IIIa GSD, 12 met the inclusion criteria. Of these, 10 patients (mean age 11.2 +/- 7.4 years) completed the study. Patients were prescribed a personalized high-protein, high-fat diet, comprising 3.0-3.5 g/kg/day of protein and 3.0-4.5 g/kg/day of fat, constituting 18.5%-28% and 70.5%-75.7% of daily energy, respectively. Dietary compliance was ensured and assessed via the regular administration of questionnaires. Our results revealed consistent and significant decreases of 22%, 54%, and 30% in the creatinine kinase, creatine kinase-myocardial band, and lactate dehydrogenase levels, respectively. Echocardiography revealed improvements in the Z-scores of the left ventricular mass and interventricular septum thickness. A significant increase in body muscle mass was observed, and a higher score was achieved using the Daily Activity Questionnaire. Growth monitoring revealed an arrest in the height-SDS at the 6th and 12th months, followed by subsequent improvement at the end of the second year. A gradual and persistent decline in the periods of hypo- and hyperglycemia has been reported. Biotinidase activity decreased, whereas hepatosteatosis increased and then decreased by the end of the study. Implementing a high-protein, high-fat diet and monitoring key parameters in patients with type IIIa GSD can lead to myopathic and cardiac improvements and increased physical activity.Öğe A Mortal Complication in a Case with Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage(Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2021) Yazici, Havva; Canda, Ebru; Er, Esra; Malbora, Baris; Hismi, Burcu Ozturk; Onay, Huseyin; Aksoylar, SerapMucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the alpha-L-iduronidase. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzyme replacement therapy and haematopoietic stem cell transplantation (HSCT). Pulmonary haemorrhage (PH) is a rare complication of HSCT and the case was presented with the reason that the related reports were few in MPS I.Öğe Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency(Turkish J Pediatrics, 2022) Yazici, Havva; Canda, Ebru; Onay, Huseyin; Ucar, Sema Kalkan; Habif, Sara; Coker, MahmutBackground. Methylmalonyl CoA epimerase (MCE) deficiency was first reported in 2006 and only a few cases have been reported so far. The clinical spectrum of MCE deficiency ranges from asymptomatic to life -threatening metabolic decompensation attacks.Case. Herein we report a patient diagnosed with MCE deficiency with recurrent acute metabolic ketoacidosis attacks and moderate MMA-uria that persisted in periods without decompensation. At presentation, organic acid profiles were dominated by increased 3 hydroxybutyrate.Conclusions. 3-Oxothiolase deficiency as a main ketolysis defects disorder was initially suspected. However, the subsequently repeated organic acid analyses demonstrated mild and persistent elevation of methylmalonic acid. This report provides a new phenotype of the clinical and biochemical characterization of MCE deficiency.Öğe Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux(Soc Argentina Pediatria, 2022) Karatas, Murat C.; Yazici, Havva; Bozaci, Ayse E.; Canda, Ebru; Levent, Erturk; Ucar, Sema K.; Coker, MahmutTay-Sachs disease is a neurodegenerative inherited metabolic disease. There are four forms classified by the time of first clinical symptoms: infantile, late infantile, juvenile and adult. Infantile form has the poorest prognosis. Lately, different abnormalities which accompany metabolic disorders and affect the prognosis have been described. We present an infant with Tay-Sachs disease accompanied by coarctation of the aorta and bilateral grade V vesicoureteral reflux (VUR). The patient was followed up in the outpatient clinic of Pediatric Cardiology. The abdominal ultrasonography showed pelvicalyceal ectasia; bilateral grade V VUR in voiding cystourethrography was found. This coexistence has not been previously reported. This case emphasizes that abnormalities in the neurological examination of cardiac postsurgical patients should not be underestimated because the opportunity to inborn errors of metabolism could be missed.Öğe Recurrent ketoacidosis: Is it a ketone metabolism disorder?(Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2018) Canda, Ebru; Yazici, Havva; Esra, E. R.; Kalkan Ucar, Sema; Gemperle-Britschgi, Corinne; Habif, Sara; Onay, Huseyin; Sass, Jorn Oliver; Coker, MahmutObjective: Two defects of ketogenesis have been reported in the human so far; mitochondria) 3-hydroxy-3-methyl glutaryl CoA synthase (Mhs) and 3-hydroxymethyl-3glutaryl CoA lyase (HL) deficiencies. Defects of ketone degradation (ketolysis) can be the result of enzyme deficiency of succinyl CoA: 3 oxoacid CoA transferase (SCOT) or methylacetoacetyl CoA thiolase-beta ketothiolase (MAT). Our aim was to evaluate the clinical and laboratory findings of patients who were followed up with the diagnosis of ketone metabolism disorders. Methods: Patients who were diagnosed with ketone metabolism disorders were examined retrospectively. Results: The patients had HL deficiency (n=4), MAT deficiency (n=3) and SCOT deficiency (n=2). The median age of the patients was 5 years (6 months-15.5 years) and the mean age of the first metabolic decompensation episode was 7.7 months (22 days19 months). A patient with MAT deficiency was asymptomatic and diagnosed by family screening. Two patient; developed severe neurological deficit like spastic tetraparesis. It was seen that decompensation attacks developed after poor feeding, vomiting and infections such as gastroenteritis. Conclusion: in case of unexplained metabolic acidosis attacks, ketone metabolism disorders should be kept in mind. Acute decompensation may occur at different ages, and its clinical severity may be variable. Early diagnosis and appropriate treatment are very important in terms of mortality and morbidity.Öğe Severe perinatal hypophosphatasia case with a novel mutation(Soc Argentina Pediatria, 2022) Yazici, Havva; Canda, Ebru; Ucar, Sema Kalkan; Coker, Mahmut[No Abstract Available]Öğe Single center experience of biotinidase deficiency: 259 patients and six novel mutations(Walter De Gruyter Gmbh, 2018) Canda, Ebru; Yazici, Havva; Er, Esra; Kose, Melis; Basol, Gunes; Onay, Huseyin; Ucar, Sema Kalkan; Habif, Sara; Özkınay, Ferda; Coker, MahmutBackground: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%-30% enzyme activity) and profound deficiency (0%-10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients and to determine the clinical and laboratory findings of our patients and their follow-up period. Methods: A total of 259 patients who were diagnosed with BD were enrolled in the study. One hundred and forty-eight patients were male (57.1%), and 111 patients were female (42.9%). Results: The number of patients detected by newborn screening was 221 (85.3%). By family screening, 31 (12%) patients were diagnosed with BD. Seven patients (2.7%) had different initial complaints and were diagnosed with BD. Partial BD was detected in 186 (71.8%) patients, and the profound deficiency was detected in 73 (28.2%) patients. Most of our patients were asymptomatic. The most commonly found variants were p.D444H, p.R157H, c.98_104delinsTCC. The novel mutations which were detected in this study are p.D401N(c.1201G >A), p.A82G (c.245C>G), p.F128S(c.383T>C), c617 619del/TTG (p.Va1207de1), p.A287T(c.859G > A), p.S491H(c.1471A > G). The most common mutation was p.R157H in profound BD and p.D444H in partial BD. All diagnosed patients were treated with biotin. Conclusions: The diagnosis of BD should be based on plasma biotinidase activity and molecular analysis. We determined the clinical and genetic spectra of a large group of patients with BD from Western Turkey. The frequent mutations in our study were similar to the literature. In this study, six novel mutations were described.