Study of the biochemical basis of genetic and acquired disorders and diseases, including inherited metabolic disorders, cancer, and diabetes.
Metabolism: The chemical reactions that occur in the body to maintain life.
Enzymes: Cellular proteins that catalyze biochemical reactions.
Genetic mutations: Alterations in DNA that can lead to biochemical disorders or diseases.
Amino acids: The building blocks of proteins and enzymes.
Lipids and phospholipids: Important components of cell membranes and energy storage.
Carbohydrates: Sugars and starches that provide energy for the body.
Vitamins and coenzymes: Essential micronutrients that aid in biochemical reactions.
Minerals: Important nutrients for enzyme function and metabolic pathways.
Hormones: Signaling molecules that regulate physiological processes.
Acids and bases: The pH balance of the body and its effects on biochemical reactions.
Oxidative stress: An imbalance between free radicals and antioxidants that can lead to cellular damage.
Mitochondrial function: The role of these organelles in energy production and disease.
Protein folding: The process by which proteins take their shape, and the implications for disease.
Signal transduction: The process by which cells receive and process signals from their environment or other cells.
Immune system function: The role of biochemical processes in immune response and autoimmune disorders.
Neurotransmitters: Chemical messengers in the nervous system that regulate behavior and mood.
Glycogen storage disorders: A group of inherited metabolic disorders affecting the body's ability to store and use glycogen.
Lysosomal storage disorders: A group of rare genetic disorders caused by the accumulation of waste within lysosomes.
Inborn errors of metabolism: Genetic disorders that affect the body's ability to break down and use macronutrients.
Cancer metabolism: The role of biochemical pathways in the development and progression of cancer.
Hyperlipidemia: It is a condition of high levels of lipids or fats in the blood, which increases the risk of coronary heart disease.
Phenylketonuria (PKU): It is a genetic disorder that causes a buildup of the amino acid phenylalanine in the blood, leading to intellectual and developmental disability.
Galactosemia: It is a metabolic disorder that affects the body's ability to break down the sugar galactose, leading to liver and brain damage.
Glycogen storage disease: It is a condition that affects the body's ability to store and process glycogen, leading to muscle weakness, liver enlargement, and low blood sugar.
Maple syrup urine disease: It is a rare genetic disorder that affects the body's ability to break down certain amino acids, leading to brain damage and other neurological problems.
Alkaptonuria: It is a rare metabolic disorder that causes a buildup of homogentisic acid, leading to joint and connective tissue damage over time.
Sickle cell anemia: It is a genetic blood disorder that affects the production of hemoglobin, causing abnormal red blood cells that can block blood flow and lead to pain and organ damage.
Hemochromatosis: It is a genetic disorder that causes the body to absorb too much iron, leading to damage of organs such as the liver, heart, and pancreas.
Porphyria: It is a group of rare genetic disorders that affect the production of heme, a substance essential for the function of hemoglobin, leading to problems with the nervous system and other organs.
Cystic fibrosis: It is a genetic disorder that affects the production of mucus, leading to problems with the lungs, pancreas, and digestive system.