Gaucher disease perinatal lethal


Type of disease: Rare conditions

Gaucher disease is an inherited condition that affects many different systems of the body. It results from a mutation or error in a person’s DNA or genes. There are five forms of Gaucher disease, but Gaucher disease perinatal lethal is the most severe form. Gaucher disease is considered a lysosomal storage disorder because individuals affected by Gaucher disease have lysosomes (the recycling center of each cell) that cannot break down certain types of fats. This causes undigested fat molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms. Gaucher disease perinatal lethal causes life threatening complications before birth and in the first day of life. These include swelling caused by fluid build-up before birth (hydrops fetalis), scaly skin (ichthyosis) or other skin abnormalities, swollen stomach, distinctive facial features, and neurological problems. Gaucher disease perinatal lethal causes very serious complications, and most babies with this form of the condition die shortly after birth. This condition is autosomal recessive which means an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease. If both parents are known carriers, prenatal diagnosis is possible through chorionic villus sampling (CVS) or amniocentsis.

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