Alkaptonuria – Causes, Symptoms, and Prevention.

Definition Alkaptonuria is a rare inherited disorder. It occurs when your body can’t produce enough of an enzyme called homogentisic dioxygenase (HGD). This enzyme is used to break down a toxic substance called homogentisic acid. When you don’t produce enough HGD, homogentisic acid builds up in your body. The buildup …

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Apallic syndrome – Causes, Diagnosis, and Prognosis.

Introduction Apallic syndrome (AS) also called Unresponsive Wakefulness Syndrome (UWS) and Persistant Vegetative State. It is a result of a traumatic brain injury such as diffuse, bilateral cerebral cortical degeneration and anoxia, or encephalitis which causes the brain to halt the ability to create thoughts, experience sensation, and remember past …

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Hemochromatosis – Causes, Risk Factors and Medications.

Definition Hemochromatosis is an iron disorder in which the body simply loads too much iron. This action is genetic and the excess iron, if left untreated, can damage joints, organs, and eventually be fatal.   Types of hemochromatosis Hereditary hemochromatosis isn’t the only type of hemochromatosis. Other types include: Juvenile …

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Marfan Syndrome – Causes, Risk Factors, and Treatment.

Definition Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.   Normal and marfan syndrome Connective tissue is made up of proteins. …

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Thalassemia – History, complications and prevention.

Definition Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a condition in which your …

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Cystic Fibrosis – Causes, Diagnosis and Treatment.

Definition Cystic fibrosis is a life-threatening hereditary disease that causes the body to produce thick and sticky mucus that can clog the lungs and obstruct the pancreas. Over time, mucus builds up inside your airways. This makes breathing a struggle. The mucus traps germs and leads to infections. It can …

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