A5045062039- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Folate and B Vitamins Research
- Mitochondrial Function and Pathology
- Trypanosoma species research and implications
- Diet and metabolism studies
- Amino Acid Enzymes and Metabolism
- Neonatal Health and Biochemistry
- Carbohydrate Chemistry and Synthesis
- Biochemical and Molecular Research
- Neurogenetic and Muscular Disorders Research
- Lipid metabolism and disorders
- Pediatric Hepatobiliary Diseases and Treatments
- Blood disorders and treatments
- Dermatological and Skeletal Disorders
- Pancreatic function and diabetes
- Adrenal Hormones and Disorders
- Gout, Hyperuricemia, Uric Acid
- Glycogen Storage Diseases and Myoclonus
- Glycosylation and Glycoproteins Research
- Metabolomics and Mass Spectrometry Studies
- Genetic Syndromes and Imprinting
- Cholesterol and Lipid Metabolism
- Immunodeficiency and Autoimmune Disorders
- Peroxisome Proliferator-Activated Receptors
Dokuz Eylül University
2017-2025
Sağlık Bilimleri Üniversitesi
2020-2024
Dr. Behçet Uz Çocuk Hastalıkları Hastanesi
2021-2022
Bilkent University
2020
Ankara Bilkent City Hospital
2020
Microlissencephaly is a subtype of congenital microcephaly characterized by extreme with simplified gyral pattern. Other brain malformations may accompany it. WDR81 encodes multi-domain transmembrane protein that predominantly expressed in the and thought to play role endolysosomal trafficking autophagy. We reported two siblings microlissencephaly born consanguineous Turkish parents reviewed all previously patients variants presenting severe accompanied malformations. Whole-exome sequencing...
<title>Abstract</title> <italic><bold>Purpose:</bold></italic><bold> </bold>Newborn screening refers to series of tests conducted within the first hours or days a newborn's life prevent severe health complications, including death. The study aims investigate and document other findings diseases that are incidentally detected through physical examination laboratory results in infants referred due elevated phenylalanine levels biotinidase deficiency as result newborn screening....
Biallelic variants in PNPT1 cause a mitochondrial disease of variable severity. (polynucleotide phosphorylase) is protein involved RNA processing where it has dual role the import small RNAs into mitochondria and preventing formation release double-stranded cytoplasm. This, turn, prevents activation type I interferon response. Detailed neuroimaging findings PNPT1-related are lacking with only few patients reported basal ganglia lesions (Leigh syndrome) or non-specific signs.To document data...
Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity. Prevention and management obesity, which represents main morbidity mortality in these patients, essential. Ketogenic diet (KD) used treatment various disorders, however knowledge its effect PWS lacking. The present study assesses characteristics patients with who were on KD.This a retrospective, cross-sectional descriptive investigating subjects PWS, had received KD for at least 6 months.Ten [median age 52.5 (47-77)...
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...
Vitamin B12 deficiency frequently appears in phenylketonuria patients having a diet poor natural protein. The aims of this study were to evaluate vitamin status by using combined indicator (cB12) as well methylmalonic acid and homocysteine, more specific sensitive markers, comparison with healthy controls.Fifty-three children adolescents under dietary treatment 30 controls assessed cross-sectionally. Serum folate concentrations analysed chemiluminescence immunoassay. Plasma total...
ABS TRACT
Abstract Background Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase ( LPL ) and APOC2 gene mutations. To date, less than 30 patients with familial 24 different mutations have been identified in the literature. Here, we describe two chylomicronemia syndrome cases infants novel of gene. Case presentation 1, 46-day-old female, was admitted to our hospital for evaluation due lipemic appearance blood sample. A clinical examination revealed...
A preterm infant who underwent bilateral laser photocoagulation for the treatment of stage 3 retinopathy prematurity (ROP) is presented because she was incidentally diagnosed with grade lipemia retinalis by dilated fundoscopy at post-laser 2 weeks. Meticulous ophthalmologic examination imperative in premature newborns not only ROP screening but also detecting any concomitant ocular abnormalities, which can be sight-threatening or even life-threatening.
The wide range of clinical symptoms observed in patients with Fabry disease (FD) often leads to delays diagnosis and initiation treatment. Delayed therapy may result end-organ damage, such as chronic renal failure, hypertrophic cardiomyopathy, stroke. Although some tools are available identify undiagnosed patients, new comprehensive screening methods needed. In this study, the outcomes cascade applied three index cases FD from 2 familes were investigated. pedigree analysis, 280 individuals...
Introduction: Succinyl-CoA:3-oxoacid CoA transferase (SCOT, EC 2.8.3.5) deficiency is a rare autosomal recessive inborn error of metabolism (IEM). We report here an infant admitted to intensive care unit with the diagnosis sepsis. Case Presentation: A five-month-old female patient was lethargy and respiratory distress. She had severe high anion gap metabolic acidosis. The IEM screened by plasma amino acid analysis, showing no abnormalities, acylcarnitine low-normal levels free carnitine....
Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder characterized by aberrant triacylglycerol metabolism due to mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. This report presents case study of 14-year-old female patient exhibiting symptoms NLSDM, including recurrent abdominal pain, fatigue, leg and hepatosteatosis. Diagnostic investigations revealed elevated creatinine kinase levels, myopathic findings on...
Ochronotic arthropathy (OcA) refers to excessive homogentisic acid (HGA) deposition in the musculoskeletal system. Our current understanding of OcA is limited, as there are less than a thousand alkaptonuria (AKU) cases reported literature. Herein, we investigated rheumatological manifestations group adult AKU patients.Adult patients with symptoms suggestive were included. Patients underwent detailed assessment. Laboratory testing, including autoantibodies and radiological investigations such...
<h3>Background</h3> Alkaptonuria (AKU) is a metabolic disorder that causes accumulation of oxidized homogentisic acid (HGA) in the connective tissues. The excessive deposition HGA and its metabolites can cause joint destruction skeletal abnormalities which entity clinically referred as ochronotic arthropathy (OA) [1]. <h3>Objectives</h3> To assess clinical, demographic features radiographic findings patients with OA. <h3>Methods</h3> Adult AKU registered database were included study. All...
Purpose: Phenylketonuria PKU is an inherited metabolic disease caused by low levels of the enzyme phenylalanine hydroxylase. Treatment includes dietary restriction Phe and supplementation with tetrahydrobiopterin large neutral amino acids LNAAs . The purpose this study to evaluate effect LNAA therapy on blood in patients undergoing treatment for at least 6 months.Methods: Blood 34 classical receiving longer than months were compared before during first 3 years treatment.Results: mean age was...
As the survival rates in children with cancer reach up to 80%, this improvement increases number of patients under follow-up. After treatment is completed, are taken follow-up surveillance ensure early detection recurrence and late effects treatments. The frequency necessity screening tests controversial. This study aimed assess efficacy recurrence.The files 533 who were diagnosed as having at our pediatric oncology clinic between 2004 2013 retrospectively evaluated. We looked outcomes after...
Background: Fabry disease (FD) is a rare metabolic disorder caused by the mutations in α-galactosidase A (GLA) gene. FD patients present with heterogeneous clinical manifestations, which may overlap systemic diseases including familial Mediterranean fever (FMF). Recurrent episodes of fever, abdominal pain, and arthralgias can be observed both disorders this lead to misdiagnosis. Objectives: To investigate prevalence mild severe FMF patients. Methods: total 66 patients, according Tel-Hashomer...