A5031848053- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Neurological and metabolic disorders
- Peroxisome Proliferator-Activated Receptors
- Diet and metabolism studies
- Drug Transport and Resistance Mechanisms
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Adipose Tissue and Metabolism
- Lipoproteins and Cardiovascular Health
- Heme Oxygenase-1 and Carbon Monoxide
- Folate and B Vitamins Research
- Adenosine and Purinergic Signaling
- Lysosomal Storage Disorders Research
- Pharmacological Effects and Toxicity Studies
- Carbohydrate Chemistry and Synthesis
- Antiplatelet Therapy and Cardiovascular Diseases
- Inflammation biomarkers and pathways
- Glycosylation and Glycoproteins Research
- Sepsis Diagnosis and Treatment
- Neurogenetic and Muscular Disorders Research
- Ion Transport and Channel Regulation
- Obesity, Physical Activity, Diet
- Nutritional Studies and Diet
- Glycogen Storage Diseases and Myoclonus
Kayseri Eğitim ve Araştırma Hastanesi
2019-2025
Sağlık Bilimleri Üniversitesi
2019-2021
Erciyes University
2015-2020
Universidad CES
2018
Institute of Nutrition, Metabolism and Diabetes
2017
Abstract Objectives Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical TD may not all be co-present. This study evaluates patients diagnosed with in childhood to improve the possibility early diagnosis asymptomatic cases reporting our patients’ characteristics order minimize delayed...
Background. Obesity is a significant public health problem worldwide. Vitamin deficiencies, developing due to monotype nutrition, are more likely be observed in patients than healthy children. The present study evaluates vitamin and micronutrient levels children adolescents with obesity metabolic syndrome compared controls. Methods. included 73 obesity, 64 71 (control group) aged 10 16 years. Physical examinations were performed, waist circumference systolic blood pressure measurements...
Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim the present study to describe clinical, biochemical, imaging follow-up seven patients with HT1 define consequences late interrupted treatment.A retrospective was carried out patients.The median age at onset clinical symptoms 11.2...
Abstract Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase ( TAT ). It may occur with ocular and cutaneous symptoms or without mental retardation, but epileptic seizure presentation this disease. Herein we report the clinical, biochemical genetic features 4‐year‐old boy who presented afebrile photophobia. Genomic DNA was obtained from peripheral blood leukocytes whole family. Sequencing analysis performed using MiSeq next‐generation...
Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG).It results from mutations in the gene encoding microsomal TG transfer protein (MTTP).A nine-month-old girl was admitted to hospital because fever, cough, diarrhea failure thrive.She had levels according her age.The peripheral blood smear revealed acanthocytosis.Thyroid function test showed central hypothyroidism.Cranial magnetic resonance...
Isolated hemolysis or hemolytic anemia and 5-oxoprolinuria are 2 distinct medical conditions in the clinical spectrum associated with glutathione synthetase deficiency.A 1-day-old female baby presented respiratory distress. Her hemoglobin level was 9.5 g/dL total serum bilirubin 5.6 mg/dL. Metabolic acidosis detected her blood gas analysis. recurred despite treatment further investigation required. 5-oxoproline 3815 mmol/mol creatinine urine organic acid analysis, a homozygous mutation...
Background: Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J according biochemical phenotype, and genetic complementation analyses. CblD-deficient patients present with developmental, hematologic, neurologic, metabolic findings. Clinical Observation: An 11-year-old boy presented neutropenia, increased mean corpuscular volume, psychomotor retardation, seizures. His plasma total homocysteine urinary methylmalonic acid levels were elevated, a homozygous nonsense...
Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase.Our first case presented with psychomotor retardation, difficulty walking, and progressive tiptoeing.Laboratory investigations revealed mildly elevated hepatic enzymes plasma arginine concentration.Molecular genetic analysis was performed for suspected argininemia a novel homozygous mutation c. 231C> A (p. S77R) detected in ARG1 gene.The second patient admitted because poor head control when he...
X-linked adrenoleukodystrophy is the most common peroxisomal disorder characterized by progressive demyelination of central nervous system, and adrenal insufficiency. A thirteen-years-old male presented with hearing loss night crying. He was talking loudly because deafness, his skin hyperpigmented. Adrenocorticotropic hormone (ACTH) level increased cortisol low in hormonal evaluation. Very long chain fatty acids were studied for suspected adrenoleukodystrophy, elevated plasma C26 led to...
Objective:To indicate the benefits of screening inherited metabolic disorders in patients with epilepsy, global developmental delay, and intellectual disability. Materials Methods:The medical records 1100 who were investigated for between March 2014 June 2017 evaluated.Five hundred epilepsy delay/intellectual disability mild/moderate non-specific neurologic findings enrolled study.Results: Inherited detected 7 500 (1.4%) disability.One patient was diagnosed as having tyrosinemia type-2, one...
Amaç: Bu çalışmanın amacı tek bir merkezde malnutrisyonu olan çocuk hastaları değerlendirmek ve malnütrisyonu hastalarda çölyak hastalığı prevalansını tespit etmektir. Gereç Yöntemler: Ocak 2016-Ekim 2017 tarihleri arasında hastanemizde malnütrisyon tanısı alan hastaların tıbbi kayıtları değerlendirildi. Çalışmaya 3 ay ile 18 yaş almış 502 dâhil edildi. Antiendomisyum IgA pozitifliği gastrointestinal endoskopi ince bağırsak biyopsileri Bulgular: Beş yüz iki hastanın 205’i (% 40,8) erkek,...