Cystic fibrosis is caused by mutations in a specific gene called the CFTR gene, which stands for cystic fibrosis transmembrane conductance regulator. This gene is responsible for producing a protein that controls the movement of salt and water in and…
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that primarily affects the lungs and liver, leading to a variety of symptoms that can range from mild to severe depending on the organs involved and the stage of the disease. Understanding…
Hemochromatosis is a condition where the body absorbs and stores too much iron, leading to iron overload that can damage organs like the liver, heart, and pancreas. Treating hemochromatosis focuses on reducing the excess iron in the body to prevent…
Wilson’s disease is caused by mutations in a specific gene called ATP7B, which plays a crucial role in the body’s ability to manage copper. Normally, copper is an essential trace mineral that the body needs in small amounts for various…
Alport syndrome is a genetic disorder that primarily affects the kidneys, ears, and eyes. It is caused by mutations in genes responsible for producing type IV collagen, an essential protein that helps maintain the structure and function of the basement…
Barth syndrome is caused by mutations in a gene called **TAFAZZIN**, which is located on the X chromosome. This gene provides instructions for making a protein named tafazzin, which plays a crucial role in maintaining the health and function of…
Morquio syndrome, also known as mucopolysaccharidosis type IV (MPS IV), is a rare inherited metabolic disorder characterized by the body’s inability to break down certain complex sugar molecules called glycosaminoglycans (GAGs). This leads to their accumulation in various tissues, causing…
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is caused by genetic mutations that lead to a deficiency in specific enzymes responsible for breaking down complex sugar molecules called glycosaminoglycans (GAGs), particularly heparan sulfate. These enzymes normally work…
Hunter syndrome, also known as Mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that affects many parts of the body and causes a wide range of symptoms. These symptoms usually appear in early childhood and progressively worsen over…
Hurler syndrome is caused by a genetic mutation that affects the body’s ability to produce a specific enzyme called alpha-L-iduronidase. This enzyme is crucial for breaking down certain complex sugar molecules known as glycosaminoglycans (GAGs), which are long chains of…