A5091168946- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Parkinson's Disease Mechanisms and Treatments
- Amino Acid Enzymes and Metabolism
- Mitochondrial Function and Pathology
- Diet and metabolism studies
- Neurological disorders and treatments
Gazi University
2020-2024
<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...
Glycogen storage disease type V is caused by the mutations in muscle glycogen phosphorylase gene. This first report which DL-3-hydroxybutyric acid was used combination with modified Atkins diet for treatment of a patient and quadriceps femoris shear wave elastography performed to evaluate efficacy.
The ketogenic diet (KD) is a low-carbohydrate, high-fat that has been used as an effective nonpharmacological treatment in many neurological and metabolic disorders for long time. effectiveness of the KD revealed mitochondrial disorders, mainly pyruvate dehydrogenase deficiency.A 4-year-old girl who was diagnosed with F-box leucine-rich repeat protein 4 (FBXL4) gene mutation hospitalized sepsis. She first given standard parenteral nutrition (PN) because gastrointestinal problems. During...
ÖzGiriş: Glikojen depo hastalığı tip I (GSD