A5077044406- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Amino Acid Enzymes and Metabolism
- Biochemical and Molecular Research
- Neonatal Health and Biochemistry
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- Genomics and Rare Diseases
- Glycosylation and Glycoproteins Research
- Pharmacological Effects and Toxicity Studies
- Diabetes and associated disorders
- Muscle metabolism and nutrition
- Neurological and metabolic disorders
- Blood disorders and treatments
- Child Nutrition and Feeding Issues
- Trypanosoma species research and implications
- Cellular transport and secretion
- Glycogen Storage Diseases and Myoclonus
- Autism Spectrum Disorder Research
- Metabolomics and Mass Spectrometry Studies
- Epilepsy research and treatment
- Liver Disease Diagnosis and Treatment
- Biotin and Related Studies
Hacettepe University
2015-2025
Hacettepe University Hospital
2016-2024
Health First
2023
Sağlık Bilimleri Üniversitesi
2020-2022
University of Naples Federico II
2022
Telethon Institute Of Genetics And Medicine
2022
Diyarbakır Askeri Hastanesi
2022
Bilkent University
2022
Ankara Bilkent City Hospital
2022
Owl Research Institute
2022
Abstract The objective of the study is to evaluate evolving phenotype and genetic spectrum patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long‐term follow‐up. Longitudinal clinical biochemical data 22 pediatric 9 adult individuals SSADHD from patient registry International Working Group on Neurotransmitter related Disorders (iNTD) were studied silico analyses, pathogenicity scores molecular modeling ALDH5A1 variants. Leading initial symptoms, onset infancy,...
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement and global developmental delay. This study presents the results first standardized deep phenotyping approach describes clinical biochemical presentation at disease onset as well diagnostic approaches 275 patients from registry International Working Group on Neurotransmitter related Disorders. The reveal an increased rate prematurity, a high risk for being small gestational age...
Abstract Objectives Propionic acidemia (PA) is an autosomal recessive multisystem disorder caused by the deficiency of propionyl-CoA carboxylase, encoded PCCA and PCCB genes. This retrospective study presents clinical laboratory characteristics PA patients followed up in our center. Methods Included were 50 diagnosed a single center with propionic between 1984 2020, whose electronic written hospital records regarding demographic, clinical, features, along diagnostic therapeutic approaches,...
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized as deficiencies in phenylalanine hydroxylase, leading to neurotoxic effects and neurodevelopmental challenges. Sleep, crucial for cognitive behavioral development, remains underexplored PKU populations. This study evaluates sleep characteristics influencing factors school-aged children with compared those hyperphenylalaninemia (HPA) healthy controls. A total of 101 aged 5-10 years participated: 37 PKU, 31 HPA,...
BackgroundMucopolysaccharidosis type VI (MPS VI) is an inherited multisystem lysosomal disorder due to arylsulfatase B (ARSB) deficiency that leads widespread accumulation of glycosaminoglycans (GAG), which are excreted in increased amounts urine. MPS characterized by progressive dysostosis multiplex, connective tissue and cardiac involvement, hepatosplenomegaly. Enzyme replacement therapy (ERT) available but requires life-long costly intravenous infusions; moreover, it has limited efficacy...
Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme purine metabolism. We delineate the genotypic phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. investigated cohort 28 new patients reviewed previously described cases, providing comprehensive characterization 40 subjects. Exome sequencing was performed to...
Hereditary dopamine transporter deficiency syndrome (DTDS) is a neurotransmitter disorder caused by defect in the neuronal uptake of dopamine. To date, 20 patients are reported literature, and we present 2 additional with DTDS harboring novel homozygous <i>SLC6A3</i> gene mutations. Patient A an 8-month-old male neonatal-onset hypotonia, who developed orolingual dyskinetic movements oculogyric crises after 4 months age, evolution to status dystonicus episodes. B 4-year-old also had hypotonia...
Ballıkaya E, Eymirli PS, Yıldız Y, Avcu N, Sivri HS, Uzamış-Tekçiçek M. Oral health status in patients with mucopolysaccharidoses. Turk J Pediatr 2018; 60: 400-406. The aim of this study is to assess oral clinical and radiological findings mucopolysaccharidoses (MPS) which are a group rare inherited disorders glycosaminoglycan catabolism. In retrospective descriptive study, records all MPS over 3 years age managed at Division Pediatric Metabolism, who were referred Department Dentistry for...
Abstract Carbamoyl phosphate synthetase 1 (CPS1) and ornithine transcarbamylase (OTC) deficiencies are rare urea cycle disorders, which can lead to life‐threatening hyperammonemia. Liver transplantation (LT) provides a cure offers an alternative medical treatment life‐long dietary restrictions with permanent impending risk of Nevertheless, in most patients, metabolic aberrations persist after LT, especially low plasma citrulline levels, questionable clinical impact. So far, little is known...
Abstract Phosphomannomutase 2 deficiency (PMM2‐CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement. In Turkey, due to high rates consanguinity, many patients with disorders have homozygous variants and these diseases are more common, compared Europe. However, published reports PMM2‐CDG from Turkey scarce. Here, we describe clinical molecular characteristics diagnosed in three centers using...
Abstract Inherited monoamine neurotransmitter disorders (iMNDs) are rare with clinical manifestations ranging from mild infantile hypotonia, movement to early severe encephalopathy. Neuroimaging has been reported as non‐specific. We systematically analyzed brain MRIs in order characterize and better understand neuroimaging changes re‐evaluate the diagnostic role of MRI iMNDs. 81 70 patients (0.1‐52.9 years, 39 tetrahydrobiopterin deficiencies, 31 primary metabolism) were retrospectively...
Disorders of intracellular trafficking are a group inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed VPS11, VPS18, VPS16, and VPS33A proteins, is involved in tethering endosomes, lysosomes, autophagosomes. Our others have previously described patients with specific homozygous missense variant, exhibiting storage disease phenotype resembling mucopolysaccharidosis (MPS), termed "MPS-plus syndrome." Here, we report two siblings...
Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting and biochemical data two uncommon pathogenic homoplasmic NC_012920.1(MT-ATP6):m.9035T>C variant MT-ATP6. Patient 1 presented as a toddler severe motor speech delay spastic ataxia without extra-neurologic involvement. 2 adolescence ophthalmoplegia cognitive or impairment. Respiratory chain complex activities were...
Abstract Objectives Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting approximately 60 disorders. In some types lysosomal enzyme replacement therapy (ERT) is administered intravenously in weekly or biweekly doses. Unfortunately, scheduled ERT during COVID-19 was disrupted. We considered the possibility adverse outcomes caused by disruption treatment patients with Methods During pandemic, we conducted a questionnaire that delivered via Internet...
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...
Abstract Background Diet plays an integral role in the maintenance of oral health, but dietary modifications due to medical problems such as phenylketonuria (PKU) can have adverse effects on health. This descriptive study was performed evaluate health status children with PKU. Methods One hundred and ninety-seven patients PKU aged between 1 22 years were evaluated. Clinical evaluations by one experienced dentist regarding dental caries, gingival erosion. Categorical variables assessed...
Evinç SG, Pektaş E, Foto-Özdemir D, Yıldız Y, Karaboncuk Bilginer-Gürbüz B, Dursun A, Tokatlı Coskun T, Öktem F, Sivri HS. Cognitive and behavioral impairment in mild hyperphenylalaninemia. Turk J Pediatr 2018; 60: 617-624. As elevated phenylalanine (Phe) is detrimental to brain functions, determining a safe upper limit of blood Phe important for initiation treatment plans setting targets hyperphenlalaninemic patients. It accepted that levels below 360 μmol/L does not impair function hence...