A5071798314- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Cellular transport and secretion
- Biotin and Related Studies
- Genetic Neurodegenerative Diseases
- Injury Epidemiology and Prevention
- Genetics and Neurodevelopmental Disorders
- ATP Synthase and ATPases Research
- Genomics and Rare Diseases
- Burn Injury Management and Outcomes
- Neurological diseases and metabolism
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Parkinson's Disease Mechanisms and Treatments
- Mobile Health and mHealth Applications
- Inflammasome and immune disorders
- Problem Solving Skills Development
- RNA regulation and disease
- Neonatal Respiratory Health Research
- Health and Well-being Studies
- Click Chemistry and Applications
- Occupational Health and Burnout
- Workplace Health and Well-being
Ankara University
2021-2024
Ankara Bilkent City Hospital
2024
Bilkent University
2024
Memorial Ankara Hospital
2023
Eskişehir Osmangazi University
2021
Anadolu University
2021
Eskişehir City Hospital
2021
Şişli Etfal Eğitim ve Araştırma Hastanesi
2016
Hacettepe University
2010
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...
Introduction: The COVID-19 pandemic has led to considerable changes in the health care system. Experts suggested that individuals protect themselves through social isolation during pandemic, and consequently, importance of telemedicine came be understood for patients with chronic diseases. Telemedicine started used developing countries where appropriate infrastructure was lacking earlier. present study investigates level satisfaction inherited metabolic disorders (IMDs) telemedicine....
The aim of this study was to evaluate the association between Pediatric Asthma Quality Life Questionnaire (PAQLQ) and Control Test (ACT) in patients with poor asthma control. Children 7-17 years age diagnosis persistent who are not on daily inhaler corticosteroid therapy were involved. At enrollment, sociodemographic asthmatic characteristics investigated pulmonary function test (PFT), ACT PAQLQ administered. Patients reevaluated following six week regular ACT, PFT performed. Out 77...
Crucial information is lacking on unmet needs of children with rare inherited metabolic disorders during the coronavirus disease 2019 pandemic from low- and middle-income countries. We aimed to identify Turkey.In a cross-sectional observational design, all aged 0-18 years followed at Ankara University School Medicine Department Pediatrics Pediatric Metabolism Division were recruited interviewed via phone calls. The Expanded Guide for Monitoring Child Development enabled assessment...
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with mild phenotype ALG1-CDG. A 15-month-old female was referred hypotonia, failure to thrive, and developmental delay. At 8 months age, feeding difficulties delay became apparent, epileptic seizure observed at 11 age. Progressive deterioration swallowing difficulty were observed. brain MRI revealed widening the cerebrospinal fluid spaces ventricular system, decreased...
Introduction: Mitochondrial DNA depletion syndromes (MDDSs) are a group of clinically and genetically heterogeneous disorders. In the present study, we aimed to investigate frequency MDDS in children under age 5 years with suspected mitochondrial hepatopathy evaluate this patients using gene panel clinical exome sequencing (CES) genetic analysis methods. Methods: Patients who were have had neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis chronic failure...
Introduction: Metachromatic leukodystrophy (MLD) is a rare, demyelinating, autosomal recessive lysosomal storage disease caused by deficiency in the arylsulfatase A enzyme (ASA), which encoded ARSA gene. lack of ASA activity results an accumulation sulfatides myelin sheaths both central and peripheral nervous systems, leading to developmental neurocognitive progressive deterioration that can be observed all age groups. Methods: We present total 9 patients with MLD average 61 months, whose...
Papaver somniferum contains many opioids and is frequently used in agriculture. Both the intoxication withdrawal of have a wide range symptoms such as coma, depressed respiration agitation. Here, fatal case opioid will be presented. A four-year-old female patient was admitted to pediatric intensive care unit after ingesting raw poppy plants. She had shallow respiration, tachycardia, hypertension muscle cramps. high plasma level measured bolus intravenous naloxone administered which resulted...
Type C pyruvate carboxylase (PC) deficiency is extremely rare, and has been described in only a few patients literature to date. Herein, we present the case of four-year-old patient admitted with diabetic ketoacidosis diagnosed type PC based on clinical biochemical findings.A Turkish girl was referred intensive care unit at age three-years three-day history vomiting abdominal pain. Upon physical examination, found be experiencing lethargy, dehydration, Kussmaul breathing. Hyperglycemia,...
Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations in the tRNA isopentenyltransferase (<i>TRIT1</i>) gene chromosome 1p34.2. To date, only 10 types of allelic variants <i>TRIT1</i> have been previously reported 9 patients COXPD35. Herein, we describe case novel missense variant <i>TRIT1</i>. A 6-year, 6-month-old boy presented global developmental...
Hypotonia-cystinuria syndrome is a contiguous gene deletion that characterized by hypotonia, developmental delay, and cystinuria type A. We present male patient who was admitted to our center with clinical findings of hypotonia-cystinuria diagnosed megaconial congenital muscular dystrophy cystinuria.A 16-month-old complaints restlessness body laxity. It stated the had hypotonia growth retardation at age 2 months. Physical examination revealed mild retardation, development while laboratory...
Background Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal in which psychiatric symptoms, such as psychosis, can also be observed. Miglustat indicated cases with progressive neurological manifestations, and although there have been studies reporting that miglustat completely cures it has recently observed may trigger psychosis. We report on rare case of probable miglustat-induced psychosis patient NP-C. Case A 21-year-old female presented complaint social isolation...
Abstract Introduction: Infection and sepsis continue to be the leading cause of morbidity death in burn injuries. Diagnosing burns is challenging as signs symptoms are not specific overlap with those related injury. While use procalcitonin (PCT) a biomarker recommended for diagnosing burns, evidence children scarce. In this study, we aimed investigate role PCT distinguishing pediatric burns. Methods: A prospective observational study was conducted single unit. Children hospitalized ≤30%...
We aimed to assess symptoms, laboratory findings, and radiological abnormalities in patients diagnosed with inherited metabolic disorders (IMDs) the neonatal intensive care unit.A total of 6,150 newborns treated a third-level unit between 2012 2020 Turkey were screened, which 195 consulted suspicion disease based on their clinical, laboratory, or findings included present study.The prevalence IMDs was 1:94.6. Those department pediatric metabolism divided into two groups, 65 assigned as Group...
Common causes of hypoglycemia include hyperinsulinism, hormonal deficiencies, fatty acid oxidation disorders, and glycogen storage diseases; however, rare should also be considered for the condition. Mitochondrial complex III deficiency shows an autosomal recessive or a mitochondrial inheritance pattern. To date, deficiency, nuclear type 3 attributable to pathogenic variant UQCRB gene (MIM 615158) has been identified in only 2 pediatric patients; both presented with lactic acidosis. In this...
Mevalonate kinase deficiency (MKD) is a periodic fever syndrome. Nonsteroidal anti-inflammatory drugs, corticosteroids, and anakinra are the most common treatments. However, colchicine considered insufficient in disease control. In this case report, we present an 8-month-old infant with atypical presentation of MKD. She had recurrent episodes, diarrhea, lethargy. Elevated mevalonic acid was not detected urine. genetic investigation showed novel pathogenic heterozygous c.925G>C (p.Gly309Arg)...
A bstract Fumarase is an enzyme involved in the Krebs cycle. deficiency (FD) autosomal recessive disorder that associated with neurocognitive dysfunctions. In absence of fumarase, fumarate accumulated and excreted urine. FD has been reported polyhydramnios, intrauterine growth retardation, prematurity, hypotonia, seizure, facial anomalies, malnutrition, relative macrocephaly, developmental retardation. Cranial imaging findings are enlargement ventricles, polymicrogyria, thinning corpus...