A5012461722- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Biochemical and Molecular Research
- Folate and B Vitamins Research
- Carbohydrate Chemistry and Synthesis
- Diet and metabolism studies
- Genomics and Rare Diseases
- Glycosylation and Glycoproteins Research
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Trypanosoma species research and implications
- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- Child Nutrition and Feeding Issues
- Clinical Nutrition and Gastroenterology
- Oral and gingival health research
- Lipoproteins and Cardiovascular Health
- Cystic Fibrosis Research Advances
- RNA regulation and disease
- Nutrition and Health in Aging
- Systemic Sclerosis and Related Diseases
- Dermatological and Skeletal Disorders
- Botulinum Toxin and Related Neurological Disorders
Gazi University
2015-2025
Gazi Hastanesi
2021-2023
Pediatrics and Genetics
2019
Institute of Nutrition, Metabolism and Diabetes
2017
Radboud University Nijmegen
2014
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....
Dual energy X-ray absorptiometry (DXA) was used to assess lumbar spine (L2-4) and femoral neck bone mineral density (BMD) in 36 children taking either carbamazepine or valproic acid for longer than one year, generalized idiopathic epilepsy. Patients were matched with controls. Biochemical parameters of metabolism also measured. BMD values at both the femur groups not significantly different from that control group. Serum levels calcium subnormal alkaline phosphatase high Urinary lower group...
Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to deficiency in the enzymes that play role metabolism of glycosaminoglycans (GAG). The incidence mucopolysaccharidosis 1/25,000, with autosomal recessive inheritance (except for MPS II). occurs seven different types, each congenital enzymes. In patients, even though progression clinical findings not prominent, disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental...
Abstract Objectives Gaucher disease (GD) is a lysosomal storage caused by glucocerebrosidase (GCase) enzyme deficiency. cells transformed from the macrophages progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, other organs. The of substrate causes inflammation, compromised cellular homeostasis, disturbed autophagy. It has been hypothesized that this proinflammatory state GD leads cytokines chemokines release. As result inflammatory process, dysfunction...
Inborn errors of metabolism (IEMs) are a group genetic diseases that occur due to the either deficiency an enzyme involved in metabolic/biochemical pathway or other disturbances metabolic including transport protein activator deficiencies, cofactor organelle biogenesis, maturation trafficking problems. These disorders collectively significant their substantial impact on both well-being and survival affected individuals. In quest for effective treatments, replacement therapy (ERT) has emerged...
The aim of this study was to investigate the quality life (QoL) a group patients with inherited metabolic diseases (IMD) who were treated restrictive diet.A total 68 (35 boys, 51.5%; 33 girls, 48.5%) IMD (organic acidemia [OA], n = 14; disorder carbohydrate metabolism [CMD], 33; and amino acid [AMD], 21) their parents inteviewed. Both completed QoL Scale for Metabolic Diseases-Parent Form, KINDL parent questionnaire, depression form. All aged ≥4 years questionnaire themselves, including...
Crisponi syndrome (CS) and cold-induced sweating type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis, sweating, with CS patients showing a severe course in infancy involving hyperthermia associated death most cases the first years of life. To date, 24 distinct CRLF1 mutations have been found either homozygosity or compound heterozygosity CS/CISS1 patients, highest prevalence Sardinia, Turkey, Spain. By reporting 11 novel mutations, here...
Abstract In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented only autism, without any other findings, suggest neurological and genetic disorders. To investigate IEM, data hospital records 247 were referred from pediatric psychiatric outpatient clinics due further evaluation autism spectrum disorders (ASD) examined. Among them, 237 evaluated for IEM leading ASDs. Organic acidemias, phenylketonuria, tetrahydrobiopterin neutrotransmitter...
Pompe disease (PD) is an inherited lysosomal storage that progresses with glycogen accumulation in many tissues, due to the deficiency of acid-alpha glucosidase enzyme. Recombinant alglucosidase alfa (rhGAA) only disease-specific treatment option, form enzyme replacement therapy (ERT). Anaphylaxis can develop rhGAA. There no study evaluating anaphylaxis and its management PD long term. We aimed evaluate development rapid drug desensitization (RDD) rhGAA children PD.All diagnosed followed up...
Background : Endomysium antibodies (EmAb) are strongly associated with untreated celiac disease and suggested to be diagnostic. The aim of the present study was assess value anti‐EmAb for screening in children short stature. Methods In 84 height less than third percentile age, preliminary work‐ups were made find a cause their stature then serum assayed by indirect immunofluorescence tests using monkey esophagus. Results Seven positive EmAb all had histologic findings disease. Conclusions Our...
GRACILE syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload, profound lactic acidosis, and early death. It caused homozygosity for missense mutation in the BCS1L gene. The gene encodes chaperone responsible assembly of respiratory chain complex III. Here we report that homozygous c.296C > T (p.P99L), first exon found an affected 2-month-old boy asymptomatic consanguineous parents results syndrome....
Total parenteral nutrition (TPN) is a revolution in neonatal intensive care unit (NICU) care, but this therapy not without problems. A 35-week-old, 1300 g female infant was transferred to our NICU because of bilious vomiting and feeding When enteral started again, severe condition similar the previous one developed. On 24th day, patient underwent surgery with diagnosis Hirschprung’s disease. One week before surgery, solutions were composed vitamins intravenous vitamin supplements suitable...
<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...
Children with obesity have a high cardiovascular risk and an impaired oxidant-antioxidant status, which may lead to endothelial dysfunction increased carotid intima media thickness (IMT) even in childhood. The aim of this study was investigate the circulating oxidized low-density lipoprotein (LDL) concentrations IMT arteries prepubertal obese children, also search for its possible association atherosclerosis.Twenty-seven children (age, 7.48±2.05 years; boys, 59%) 30 healthy 7.80±2.19 55%)...
Dietary therapy of glycogen storage disease I (GSD I) is based on frequent feeding, with a high intake complex carbohydrates (supplied by uncooked cornstarch), restriction sugars, and lower amount lipids. There limited information about the dietary regimen in patients GSD, which might affect intestinal luminal pH microbiota composition. The aim this study to investigate composition GSD receiving diet treatment.