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Item: Diseases of the human body -> Category: Health -> Author: PF -> Revision: 13/05/2008
Glossary of hereditary diseases

Acondroplasia: genetic defect that prevents normal growth and harmonious. These people have a low height and size of the skull bigger than usual.

CF: see cystic fibrosis.

 

Creutzfeldt Jacob Disease: disease caused by a type of protein called prions. It can be caused by genetics or contagion. A variation is caused by eating meat from mad cow disease. Produces a alertagamiento progressive mental capacities.

 

Cystic fibrosis: hereditary chronic disease. It is produced by a gene mutation. Illness appeare when of both parents who inherit the mutated gene CF. It affects various organs in which a substance is produced thick mucus that prevents normal operation.This substance obstructs such damages the lungs and digestive system.

 

Diabetes: a disease that causes excess blood sugar. It occurs because the body secretes not enough insulin to convert glucose into energy or the body does not respond to this insulin.

 

Down Syndrome: genetic disorder which results in mental retardation and the presence of some physical characteristic traits.

 

Dwarfism: see achondroplasia.

 

Glactosemia: hereditary disease in which the individual has problems to metabolize sugar. This disorder can cause inter alia lesions in the liver.

 

Hemophilia: hereditary disease that affects the composition of the blood, which lacks one of the components necessary for clotting. It causes internal and external bleeding.

 

Leukodystrophy: genetic disorder which destroys the myelin metabolism. This causes progressive damage in the body.

 

Mucopolisaracoidosis: metabolic disorders for which due to a genetic fault there is one of the enzymes needed to transform the proteins in tissues. In the long run cause physical damage and in many cases also mentally.

 

Ocronosis: hereditary metabolic disorder in which lack an enzyme. It occurs because of the color of dark urine and yellow skin.

 

Phenylketonuria: hereditary disease in which the body can not metabolize phenylalanine. If this is not a time can cause mental retardation. If treatment is appropriate, there will be a normal development.

 

Porfirias: malformations that cause genetic disorders in the metabolism.

 

Psoriasis: hereditary disease of the skin. Although the disease is chronic symptoms in the form of eczema and various skin irritation show only at certain times.

 

Spina bifida: it is a malformation in the neural tube embryo that does not shut off properly. The damage in the brain and spinal cord are irreversible. The severity of the injury and may vary from no symptoms to let severely affect the aircraft psychomotor, digestive and urinary.

 




Other documents on the same subject
    -> Diseases of the human body
    -> Glossary of infectious diseases
    -> Glossary of diseases of the brain
    -> Glossary of organ diseases
    -> Glossary of digestive diseases
    -> Glossary of other diseases
    -> Glossary of bone diseases
    -> Glossary of mental illness

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