Understanding Genetic Disorders and the Human Genome Project
The Human Genome Project, completed in 2003, aimed to identify all human genes and DNA sequences. Genetic disorders, like autosomal disorders and Huntington's disease, can result from mutations at different levels, affecting single genes, chromosomes, or multiple genes. Albinism and cystic fibrosis
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Understanding Inborn Errors of Amino Acid Metabolism
Explore the world of inborn errors of amino acid metabolism through lectures by Dr. Sumbul Fatma. Discover conditions like Phenylketonuria (PKU), Maple Syrup Urine Disease, Albinism, and more, caused by enzyme deficiencies due to gene mutations. Learn about classical PKU, hyperphenylalaninemia, and
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Overview of Amino Acidopathies in Dentistry: Defects in Amino Acid Metabolism
This lecture discusses the various amino acidopathies, including phenylketonuria, albinism, alkaptonuria, maple syrup urine disease, and homocystinuria. It covers the metabolic defects in amino acid metabolism, symptoms, causes, and treatment methods for these disorders. Emphasizing the importance o
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Understanding Maple Syrup Urine Disease and Albinism
Maple Syrup Urine Disease (MSUD) is a metabolic disorder affecting the breakdown of branched-chain amino acids, leading to severe symptoms like physical and mental retardation, sweet-smelling urine, and metabolic acidosis. Treatment involves dietary restrictions and potential gene therapy. Albinism,
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