Hexokinase Deficiency as a Disorder Related to Glycolytic pathway

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Hexokinase Deficiency • Overview • Hexokinase deficiency is a rare genetic disorder affecting the enzyme hexokinase, which plays a crucial role in glycolysis. This deficiency impairs the conversion of glucose to glucose-6-phosphate, leading to abnormal red blood cell (RBC) metabolism. • Causes • 1. Autosomal recessive inheritance • 2. Mutations in the HK1 gene (encoding hexokinase) • 3. Defective enzyme activity • Symptoms • 1. Hemolytic anemia • 2. Jaundice • 3. Fatigue • 4. Shortness of breath • 5. Pale skin • 6. Enlarged spleen • 7. Increased risk of infections • Types • 1. Classic hexokinase deficiency: severe deficiency, early onset • 2. Partial hexokinase deficiency: mild deficiency, later onset • Diagnosis • 1. Blood tests: • Complete Blood Count (CBC) • Reticulocyte count • Bilirubin levels • Lactate dehydrogenase (LDH) levels • 2. Enzyme assays: • Hexokinase activity measurement • 3. Molecular testing: • Genetic analysis for HK1 gene mutations • Treatment • 1. Supportive care: • Blood transfusions • Folic acid supplements • Avoidance of triggers (e.g., certain medications) • 2. Splenectomy (in some cases) • Complications • 1. Progressive anemia • 2. Increased risk of infections • 3. Osteoporosis • 4. Cardiac complications • Prognosis • 1. Variable severity • 2. Life expectancy: normal to reduced • #HexokinaseDeficiency

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