A5021429744- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Amino Acid Enzymes and Metabolism
- Glycogen Storage Diseases and Myoclonus
- Biochemical and Molecular Research
- Neonatal Health and Biochemistry
- Carbohydrate Chemistry and Synthesis
- Cellular transport and secretion
- Diet and metabolism studies
- Glycosylation and Glycoproteins Research
- Calcium signaling and nucleotide metabolism
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- Ion Transport and Channel Regulation
- Erythrocyte Function and Pathophysiology
- Neurogenetic and Muscular Disorders Research
- Peroxisome Proliferator-Activated Receptors
- Magnesium in Health and Disease
- Neurological and metabolic disorders
- Oral and gingival health research
- Trace Elements in Health
- Genomics and Rare Diseases
- Blood disorders and treatments
- Fetal and Pediatric Neurological Disorders
Ankara Yıldırım Beyazıt University
2019-2025
Ankara Bilkent City Hospital
2023-2024
Memorial Ankara Hospital
2022-2024
Bilkent University
2024
Ankara University
2023
Sağlık Bilimleri Üniversitesi
2018-2023
Ankara Mevki Asker Hastanesi
2023
KU Leuven
2022
Ministry of Health
2014-2021
Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi
2014-2021
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, precursor both norepinephrine and epinephrine, serotonin. Diagnosis based on analysis CSF or plasma metabolites, AADC activity in testing for variants DDC gene. The exact prevalence deficiency, number patients, variant genotype are not known. Here, we present (n = 143) 151) 348 patients with 121 whom were previously reported. In addition, report 26 new...
Abstract Objectives Empagliflozin has been used for the treatment of over 100 glycogen storage disease type Ib (GSDIb) patients worldwide since 2019. We aimed to evaluate effect empagliflozin on laboratory and clinical findings with GSDIb in Türkiye. Methods Included this multicenter study were 10 GSDIb, whose demographic, data analyzed retrospectively. Further garnered through a survey caregivers effects quality life (QoL). Results The mean age at which was started 73.2 (4–239) months....
Introduction: Bi-allelic variants in the 17-hydroxysteroid dehydrogenase type 4 gene (HSD17B4) cause extremely rare autosomal recessive disorder known as peroxisomal D-bifunctional protein deficiency (D-BPD) (#OMIM 261515). This mediates hydration and dehydrogenation fatty acid β-oxidation pathway. Because of this, very long chain acids (VLCFAs), branched (pristanic acid), bile components can't be broken down without it. Clinically, it causes developmental delay with neonatal hypotonia,...
Glycogen synthase deficiency, also known as glycogenosis (GSD) type 0 is an inborn error of glycogen metabolism caused by mutations in the GYS2 gene, which transmitted autosomal recessive trait. It a rare form hepatic storage disease with less than 30 cases reported literature so far. The disorder characterized fasting hyperketotic hypoglycemia without hyperalaninemia or hyperlactacidemia. lack liver synthesis, therefore hepatomegaly not observed patients deficiency. Symptoms (GSD0) usually...
Abstract Background Coenzyme Q10 (CoQ10) serves as a shuttle for electrons from complexes I and II to complex III in the respiratory chain, has important functions within mitochondria. Primary CoQ10 deficiency is mitochondrial disorder which devastating effects, may be partially treated with exogenous supplementation. Case presentation A 9-month-old girl patient was referred our clinic due growth retardation, microcephaly seizures. She third child of consanguineous parents (first-degree...
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...
<b><i>Introduction:</i></b> Glycogen storage disease Type III (GSD III) is an autosomal recessive caused by the deficiency of glycogen debranching enzyme, encoded AGL gene. Two clinical types are most prevalent: GSD IIIa involves liver and muscle, whereas IIIb affects only liver. The classical dietetic management prevention fasting, frequent feeds with high complex carbohydrates in small children, a low-carb-high-protein diet older children adults. Recently, diets...
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...
Biotinidase deficiency is an autosomal recessive inborn error of biotin metabolism. Children with biotinidase cannot cleave biocytin and, therefore, recycle biotin. Untreated individuals become secondarily deficient, which in turn results decreased activities the biotin-dependent carboxylases and subsequent accumulation toxic metabolites causing clinical symptoms. characterized by neurological, cutaneous manifestations metabolic abnormalities. The worldwide incidence profound has been...
Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical features, including intellectual disability, hearing impairment, coarse facial appearance, skeletal anomalies, immunodeficiency, central nervous system involvement, psychiatric comorbidities, corneal opacity, and hepatosplenomegaly. This multicenter study assesses long-term outcomes of individuals diagnosed alpha-mannosidosis,...
<b><i>Introduction:</i></b> Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterized by 5-oxoprolinuria. The inherited of 5-oxoprolinuria, or pyroglutamic aciduria, primarily caused mutations in the genes that encode glutathione synthetase (GSS) and (OPLAH), which are enzymes involved gamma-glutamyl cycle metabolism. We report 3-year-old male patient with epilepsy speech difficulty diagnosed as primary 5-oxoprolinuria due to novel...
A 4-month-old boy was referred to our center for hepatosplenomegaly and hypoglycemia with an early diagnosis of glycogen storage disease. This index case, the third child consanguineous Turkish parents, born at term following uncomplicated pregnancy by normal vaginal delivery a birth weight 2900 g. Physical examination time admission revealed failure thrive, microcephaly, hypotonia, typical rotary nystagmus, hepatosplenomegaly, jaundice, ascites. Blood testing showed conjugated...
Gündüz M, Ünal Ö, Küçükçongar-Yavaş A, Kasapkara Ç. Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes. Turk J Pediatr 2019; 61: 289-291. methy (AMACR) deficiency is a rare autosomal recessive peroxisomal disorder characterized by cholestatic disease in the neonatal period, and variable neurologic symptoms affecting central peripheral nervous systems following years. We report Turkish patient who was diagnosed AMACR presentation of The referred for...
Abstract Malonyl-CoA, a product of acetyl-CoA carboxylase is metabolic intermediate in lipogenic tissues that include liver and adipose tissue, where it involved the de novo fatty acid synthesis elongation. Malonyl-CoA decarboxylase (MLYCD, E.C.4.1.1.9), 55-kDa enzyme catalyses conversion malonyl-CoA to carbon dioxide, thus providing route for disposal from mitochondria peroxisomes, whereas cytosol, pool regulated by balance MLYCD activities. So far, 34 cases with different gene defects...
Dear Editor, Propionic acidemia is one of the intoxication type organic acidemias, which often present in neonatal period with lethargy, feeding difficulties, hypotonia, vomiting and coma if not identified treated appropriately. Patients propionic can decompensate during periods increased metabolic demand (1, 2). Hemophagocytic lymphohistiocytosis (HLH) a life threatening disorder that rapidly deteriorate lead to multiple organ failure death. It be classified as primary (familial) or...