A5010322627- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Lysosomal Storage Disorders Research
- Neonatal Health and Biochemistry
- Biochemical and Molecular Research
- Diabetes and associated disorders
- Glycogen Storage Diseases and Myoclonus
- Neurological and metabolic disorders
- Inflammasome and immune disorders
- Folate and B Vitamins Research
- Autism Spectrum Disorder Research
- Carbohydrate Chemistry and Synthesis
- Trypanosoma species research and implications
- Child Nutrition and Feeding Issues
- Infectious Encephalopathies and Encephalitis
- Cancer, Hypoxia, and Metabolism
- Peroxisome Proliferator-Activated Receptors
- Genetics and Neurodevelopmental Disorders
- Adipose Tissue and Metabolism
- Vitamin D Research Studies
- Digestive system and related health
- Genomics and Rare Diseases
- Diabetes Management and Research
Istanbul University-Cerrahpaşa
2014-2025
Istanbul University
2014-2024
Sağlık Bilimleri Üniversitesi
2019-2020
University of Arts
2020
Namık Kemal University
2020
Şişli Etfal Eğitim ve Araştırma Hastanesi
2019
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience diagnostic delay. Although early diagnosis and treatment initiation can improve symptoms prognosis, standardised approach to diagnosis, management of patients not yet established. Aim To assess expert opinion on best care practices for using modified Delphi method. Methods A multidisciplinary group healthcare...
ABSTRACT Urea cycle disorders (UCDs) are a group of genetic metabolic conditions characterized by enzyme deficiencies responsible for detoxifying ammonia. Hyperammonemia, the accumulation intermediate metabolites, and deficiency essential amino acids—due to protein‐restrictive diet use ammonia scavengers—can increase risk infections, particularly during crises. While underlying mechanisms immune suppression still being fully elucidated, hyperammonemia may impair function cells, T cells...
Autism spectrum disorders (ASDs) are a major health problem because of their high prevalence in the general population. The pathophysiology ASD remains unclear, although genetic defects may be detected 10-20% affected patients. Among these cases, inherited metabolic (IMD) has not been extensively evaluated. IMDs responsible for ASDs usually identified via clinical manifestations such as microcephaly, dysmorphic features, convulsions, and hepatosplenomegaly. Infrequently, patients with no...
Hereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite nitisinone treatment HT1 still carries the risks of hepatocellular carcinoma (HCC) neuropsychological outcome.A retrospective single center study was carried out based on phenotype, therapy outcome in 38 Turkish patients with diagnosed during last 20 years.None newborn screening. The were grouped according acute, subacute forms disorder. main...
Introduction: The prognosis of phenylketonuria (PKU) in terms neurocognitive outcome is directly related to lifelong phenylalanine (Phe) levels and adherence treatment. Monitoring treatment PKU patients can be complicated challenging circumstances as pandemics. This study aims evaluate the impact telemedicine for monitoring on metabolic during coronavirus disease-19 (COVID-19) outbreak. Materials Methods: Patients who were diagnosed treated with low Phe diet, tetrahydrobiopterin (BH4), or...
Mucopolysaccharidosis type III B (MPS IIIB) is an autosomal recessive lysosomal storage disease caused by mutations in the NAGLU gene which codes enzyme alpha-N-acetylglucosaminidase. The major symptoms of are cognitive and neurological defects. In this study, molecular spectrums 13 MPS IIIB patients were evaluated.Thirteen from 11 families included study. All both clinically molecularly diagnosed. sequencing was performed using a next generation platform (Illumina MiSeq). Demographic,...
While Continuous Renal Replacement Therapy (CRRT) is a well established treatment modality for patients with acute kidney insufficiency (AKI), it now also being used the management of various illnesses such as metabolic disorders presenting hyperammonemia and elevated leucine levels. Herein, we aimed to describe our experience CRRT in decompensation 14 diagnosis disorder who has been admitted pediatric intensive care unit (PICU) last year.Patients have had life threatening crisis due were...
Mucopolysaccharidosis is a group of lysosomal disorders deficiency specific enzyme required for glycosaminoglycan degradation. type IX the rarest form mucopolysaccharidosis. To date, only four patients have been reported. The first reported patient had mild short stature and periarticular soft tissue masses; other are clinically indistinguishable from juvenile idiopathic arthritis. In present study, we screened mucopolysaccharidosis among with arthritis hyaluronidase assay. One hundred eight...
Abstract Objectives There has been a recent worldwide outbreak of coronavirus disease (COVID-19). Most the health system capacity directed to COVID-19 patients, and routine outpatient clinics have suspended. Chronic such as inherited metabolic disorders (IMD), had trouble accessing healthcare services. Methods An online cross-sectional survey was conducted among patients with IMDs who were present for follow-up at our clinic address their problems during pandemic period. Our clinic’s...
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited diagnosis and management of OTCD, using an online 12-question-survey that was sent 75 metabolic centres in Turkey, France UK. Thirty-nine responded 495 patients were reported total. A total 208 French reported, including 71 (34%) males, 86 (41%) symptomatic 51...
Fabry disease is an inherited lysosomal storage characterized by intracellular globotriaosylceramide (Gb3) accumulation due to a deficiency of the enzyme alpha-galactosidase A (a-GalA).Deficiency a-GalA results in glycosphingolipids lysosomes various cells, tissues, and organs. 1 The pathophysiological mechanism contributing progressive organ dysfunction involves gradual vascular endothelial cells. accumulated cells tissues cause inflammation fibrosis.Angiokeratomas, corneal lenticular...
Most patients with organic acidemia suffer from recurrent infections. Although neutropenia has been reported in multiple studies, other components of the immune system have not evaluated thoroughly. This study was conducted to assess status (OA).Thirty-three OA followed up Istanbul University-Cerrahpasa, Cerrahpasa School Medicine, Nutrition and Metabolism Department a total 32 age sex matched healthy controls were enrolled study. The demographic clinical data recorded retrospectively...
2-hydroxyglutaric aciduria is an inherited neurometabolic disorder with two major types: D-2-hydroxyglutaric and L-2-hydroxyglutaric aciduria. An easy fast capillary electrophoresis system combined a capacitively coupled contactless conductivity detection method was developed for the enantioseparation determination of D- acid in urine. acids were separated using vancomycin as chiral selector. The optimal separation conditions enantiomers achieved by use buffer containing 50 mM...
Abstract Candidemia is emerging as a significant concern in children, particularly among those with underlying conditions like malignancies or prematurity. The interpretation of epidemiological data on candidemias and their antifungal resistance plays vital role aiding diagnosis guiding clinicians treatment decisions. From 2014 to 2021, retrospective analysis was conducted İstanbul, Turkey; comparing Candida albicans non-albicans (NAC) spp both surviving deceased groups. Furthermore, an...
Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, 7-year-old female patient progressive dystonic movement disorder loss acquired motor skills presented. Coarse feature abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the to be investigated terms fucosidosis despite absence Markedly decreased enzyme activity...