A5070323921- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Amino Acid Enzymes and Metabolism
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Biotin and Related Studies
- Vitamin D Research Studies
- Lysosomal Storage Disorders Research
- Nutrition and Health in Aging
- Trypanosoma species research and implications
- Pharmaceutical studies and practices
- Genomics and Rare Diseases
- Advanced biosensing and bioanalysis techniques
- Muscle metabolism and nutrition
- Glycogen Storage Diseases and Myoclonus
- Bacterial Infections and Vaccines
- Neonatal and fetal brain pathology
- Cultural and Sociopolitical Studies
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Metabolomics and Mass Spectrometry Studies
- Click Chemistry and Applications
- RNA modifications and cancer
- RNA regulation and disease
- Genetic Syndromes and Imprinting
- Media Discourse and Social Analysis
Istanbul University
2021-2025
Harran University
2018-2023
Sakarya University
2018
Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi
2010-2017
Abstract There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency branched-chain amino acid (BCAA) depletion and is linked a disorder characterized by autism, intellectual disability microcephaly. We report the largest cohort patients studied, broadening phenotypic genotypic spectrum. Moreover, this first study present newborn screening findings mid-term clinical outcome. In cross-sectional study, with...
Abstract Objectives Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated (Phe) reduced tyrosine (Tyr) levels. HT3, the rarest form tyrosinemia, due 4-hydroxyphenylpyruvate dioxygenase (HPD). Case presentation We report 5-year-old girl diagnosed with HT3. She presented Phe levels neonatal screening, subsequent biochemical tests...
Abstract The diagnosis and treatment of rare diseases present significant global challenges. This study aimed to identify the difficulties faced by specialists in management diseases, as well gather their recommendations for potential solutions. An expert committee specializing inborn metabolic disease genetics developed a comprehensive survey, which was then distributed online professionals working with diseases. A total 21 actively engaged participated survey. All participants acknowledged...
Analysis of residual levels tetracyclines (TCs) in chicken meat was performed using a validated liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) technique. Overall, the recoveries for TCs ranged from 56.9% to 101.2%, standard deviations 4.5–13.2%. Detection limits 7.9 14.6 µg kg−1. In four 60 samples, doxycycline (DXC) determined range 19.9 35.6 kg−1; and one sample tetracycline detected at 17.2 Chlortetracycline (CTC) oxytetracycline (OTC) were not any tested samples....
Background/Objectives: Phenylketonuria is a hereditary metabolic disorder characterized by deficiency of phenylalanine hydroxylase. Main treatment for PKU phenylalanine-restricted diet. Exclusion protein rich natural foods and inclusion low-Phe substitutes may give rise to an imbalanced diet increasing the risk overweight obesity in cause concern. We aimed evaluate body composition nutritional biochemical biomarkers adult patients who are on Phe-restricted essential amino acids supplemented...
The new peripherally tetra-substituted metallophthalocyanines (MPcs, M=Zn, Co, Ni) bearing the chalcone, (E)-3-(4-hydroxyphenyl)-1-(thiophen-2-yl)prop-2-en-1-one, for dye-sensitized solar cells (DSSCs) were synthesized. FT-IR, 1H NMR, 13C and UV–Vis spectroscopy techniques utilized characterization of all MPcs. Electrochemical, optical photovoltaic properties MPcs as sensitizers examined. Electrochemical studies reveal that while ZnPc (4) NiPc (6) give only Pc ring-based redox reactions,...
Objective: To identify the biotinidase (BTD) gene mutations in patients with deficiency our region; and to determine phenotype-genotype correlations presence of clinical findings.
In the case here reported a heparin-like circulating anticoagulant developed during course of chronic nephritis and caused haemorrhagic diathesis.Circulating anticoagulants occur either spontaneously or as result transfusions.The presence antihaemophilic globulin (A.H.G.) was noted in approximately 10 cases haemophilia A literature.A has been described Turkey
Background: Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity. Clinical components predominantly associated with pathogenic variants shown nuclear or mitochondrial genomes that affect vital respiratory chain function. The development high-throughput sequencing technologies has accelerated elucidation etiology many previously remained undiagnosed. Methods: Thirty affected...
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents results first standardized study levodopa-refractory hyperprolactinemia (LRHP; >1000 mU/L) and pituitary magnetic resonance imaging (MRI) abnormalities patients with metabolism. Twenty-six individuals had LRHP or abnormal...
There is growing concern about the low-protein and high-energy diet therapies used in treatment of inherited amino acid metabolism disorders. We aimed to identify risk factors for noncommunicable diseases that may arise from nutritional suggests approaches prevent development diseases. The present study evaluates 112 patients, on long-term therapy at least last 2 years with a diagnosis an inborn error metabolism, their 28 healthy siblings. participants are assessed overweight metabolic...
We report a case of right-sided iatrogenic Horner's syndrome developed after surgical treatment for pulmonary hydatid cyst.This occurred in 10 year old girl who had been diagnosed as having ruptured lung cyst on the basis clinical, radiological, serological, histopathological and perioperative fi ndings.The patient underwent right thoracotomy cystotomy-capitonnage cyst.Right upper lid ptosis, miosis anisocoria were recognized rst postoperative day.Findings ameliorated completely at 6th...
Aim: A variety of methods are used to determine biotinidase activity (BA), such as different substrates, biological samples, and analytical techniques. In this study, we aimed discuss the specificity sensitivity fluorometric method in measurement newborn screening program (NSP) Turkey.Material Methods: Medical records 164 patients who were referred our clinic with diagnosis deficiency (BD) from primary health care institutions evaluated retrospectively. According classification, those normal...
Biotinidase Deficiency (BD) is an autosomal recessive metabolic disorder. However, the relationship between genotype and biochemical phenotype has not been completely elucidated yet. But still, some mutations are accepted to be associated with profound or partial deficiency. We aimed evaluate results of enzyme activity in accordance presence genetic investigate correlation together study.This retrospective study was carried out using data from medical records 133 infants detected by newborn...
Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, catalyzing the conversion of (Phe) to tyrosine. Premenstrual syndrome (PMS) consists physical, behavioral, and emotional symptoms occurring during last week luteal phase. The aim study was determine incidence PMS, document menstrual cycle characteristics PKU patients reveal relationship with blood Phe levels. conducted on 74 mean age 21.7±5.4 years. at menarche 12.7±1.3 years 82.4% had regular cycles. periods most...
Alpha-methylacyl-CoA-racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic (THCA), with variable clinical features age onset from infancy to late adulthood. The purpose this report define variations follow-up data AMACR emphasizing treatment review cases reported literature. Here, four patients, two families, diagnosed showing phenotypic heterogeneity are presented. A...
<title>Abstract</title> Cystathionine beta-synthase deficiency (CBSD) is the most prevalent inherited disorder of homocysteine metabolism in transsulphuration pathway. Research have suggested oxidative stress and inflammation as candidate pathogenic mechanisms CBSD. This study aims to evaluate mitochondrial dysfunction biomarkers cystathionine patients, which may aid understanding pathogenesis CBSD improving treatment. The group comprised 23 patients with a diagnosis healthy controls. We...
Abstract Rare diseases (RDs), important for children and families, have been poorly studied in Turkey. This study aimed to describe the experiences needs of mothers whose RDs from perspectives their mothers. In‐depth interviews were held with 16 followed up Pediatric Nutrition Metabolism Outpatient Clinic a University Hospital. The data analyzed using thematic analysis procedures. caring categorized into three main themes: (1) challenges treatment, (2) burden care, (3) expectations....
Background/Objectives: Phenylketonuria is a hereditary metabolic disorder characterized by deficiency of phenylalanine hydroxylase. The main treatment for PKU phenylalanine-restricted diet. exclusion protein rich natural foods and inclusion low-Phe substitutes may give rise to an imbalanced diet, the increased risk overweight obesity in cause concern. We aimed evaluate body composition nutritional biochemical biomarkers adult patients who are on Phe-restricted essential amino...