A5067800155- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Amino Acid Enzymes and Metabolism
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Biochemical and Molecular Research
- Diet and metabolism studies
- Glycogen Storage Diseases and Myoclonus
- Neonatal Health and Biochemistry
- Biomedical Research and Pathophysiology
- Cancer, Hypoxia, and Metabolism
- Childhood Cancer Survivors' Quality of Life
- Liver Disease Diagnosis and Treatment
- Carbohydrate Chemistry and Synthesis
- Biotin and Related Studies
- Neonatal Respiratory Health Research
- Glycosylation and Glycoproteins Research
- Folate and B Vitamins Research
- Apelin-related biomedical research
- RNA modifications and cancer
- Melanoma and MAPK Pathways
- Autoimmune Neurological Disorders and Treatments
- Trypanosoma species research and implications
- Alkaline Phosphatase Research Studies
- Lipid metabolism and disorders
Ege University
2016-2025
University of Michigan
2023
Sociedad Española de Endocrinología y Nutrición
2022
Manisa Celal Bayar University
2007-2018
Selçuk Üniversitesi Tıp Fakültesi Hastanesi
2018
Ege Üniversitesi Tıp Fakültesi Hastanesi
2016
Ankara Atatürk Eğitim ve Araştırma Hastanesi
2014
Abstract Background/Objectives Glycogen storage diseases type VI (GSD-VI) and IX (GSD-IX) are rare inherited metabolic disorders caused by enzyme deficiencies that disrupt glycogen metabolism. The aim of this study was to analyze the clinical features, nutritional management geno-phenotyping nutrition in a cohort patients with GSD-VI GSD-IX. Subjects/Methods A retrospective conducted 16 Demographic characteristics, laboratory findings, treatment outcomes were collected analyzed. Results mean...
Abstract Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It classified into two levels based on the biotinidase enzyme activity: partial (10%–30% activity) and profound (0%–10% activity). The aims this study were to evaluate our patients with BD, identify spectrum ( BTD ) gene mutations in Turkish determine clinical laboratory findings their follow-up period. Methods A total 259 who diagnosed BD enrolled study. One hundred...
Summary The aim of this study was to evaluate the effect TLR‐4 gene TLR4 c.896A<G polymorphism on development and clinical severity urinary tract infections (UTI) renal scar formations in children. patients with first diagnosis UTI ( n = 112) healthy controls 93) were enrolled study. analysed groups. mean age group 8.1 ± 3.5 years 9.2 2.7 for those control group. detected 12.5% 15.1% Forty showed pyelonephritis (PN) tissue, 37 had PN without scars, 35 lower UTI. found 22.5% scar‐positive...
Background: Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19. To date syndrome has been reported 19 patients from Canada two Finnish siblings. The underlying pathomechanism is unknown; however, presumed be involved mitochondrial membrane related processes (e.g., protein import cardiolipin remodeling). Here, we...
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,...
Pathogenic variants in SURF1, a nuclear-encoded gene encoding mitochondrial chaperone involved COX assembly, are one of the most common causes Leigh syndrome (LS). Sixteen patients diagnosed to have SURF1-related LS between 2012 and 2020 were included study. Their clinical, biochemical molecular findings recorded. 10/16 using whole-exome sequencing (WES), 4/16 by Sanger 1/16 via targeted exome patient with whole-genome (WGS). The pathogenicity SURF1 was evaluated phylogenetic studies...
Abstract Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited defects. Methods We analyzed data of suspected BH4 deficiency. All were diagnosed at Ege University Faculty Medicine Izmir, Turkey comprised collected from 2006 2019. diagnostic laboratory examinations included blood phenylalanine urinary or plasma pterins, dihydropteridine...
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...
Galactosemia is an inherited disease that occurs as a result of insufficient or no synthesis some enzymes (GALT, GALK, and GALE) in galactose metabolism. Failure to make early diagnosis, especially newborns, can lead severe clinical even fatal consequences. The aim this study develop biosensor for measuring free plasma. immobilization components the developed are screen printed carbon electrode (SCPE), Prussian blue (PB), chitosan (CHIT), Nafion (NAF), gold nanoparticle (GNP), oxidase...
Abstract Background Niemann–Pick type C (NPC) disease is a lysosomal storage with visceral organ involvement and neurological psychiatric symptoms. This study presents the clinical laboratory findings of NPC cases involving three novel variants. Methods The were reviewed retrospectively between February 2006 December 2022. Results There nine females five males. median age diagnosis patients was 5 months (range: 1 month to 38 years). phenotypes early infantile ( n = 7), late 4), juvenile 2),...
Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies neurotransmitter synthesis. Hypoglycemia caused by autonomic dysfunction one of the symptoms that may be encountered. Here we report case mild AADC presenting with hypoglycemia without any signs. A 4-year-old girl presented recurrent hypoglycemia. Her growth and development were normal. Plasma insulin cortisol values normal sample at time C8:1-Carnitine elevation...
Abstract Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome usually fatal, most effective treatment appears be hematopoietic stem cell transplantation (HSCT). Procedure In this retrospective study, we evaluated HSCT that was performed using reduced toxicity myeloablative...
Abstract Galactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the of first enzyme in Leloir pathway. GALM was reported 2018. To date, eight cases have been reported. We are presenting two siblings with deficiency; one patient presented cataracts and her brother asymptomatic. evaluated case due to a cataract at 3 months old. She had elevated galactose galactose‐1‐phosphate normal uridylyltransferase (GALT) activity. Genetic analysis other laboratory clinical...
Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With benefit early diagnosis newborn screening, acute presentation can be prevented. In this study, we describe clinical phenotypes, time and genotypes 76 patients from Turkey, where disease not yet included screening program. The median age at first symptom was 10 days (range 5-20), while 30 17-53). Nearly half (36 patients, 47.4%) were diagnosed later than 1...