Gaucher disease perinatal lethal

Common Name(s)

Gaucher disease perinatal lethal

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.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher disease perinatal lethal" for support, advocacy or research.

The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

Last Updated: 21 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher disease perinatal lethal" for support, advocacy or research.

The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

http://www.gaucherdisease.org

Last Updated: 21 Jul 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gaucher disease perinatal lethal" returned 3 free, full-text research articles on human participants. First 3 results:

Perinatal-lethal Gaucher disease presenting as hydrops fetalis.
 

Author(s): Emira BenHamida, Imene Ayadi, Ines Ouertani, Maroua Chammem, Ahlem Bezzine, Riadh BenTmime, Leila Attia, Ridha Mrad, Zahra Marrakchi

Journal:

 

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ...

Last Updated: 31 Dec 1969

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Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
 

Author(s): D L Stone, O P van Diggelen, J B de Klerk, J L Gaillard, M F Niermeijer, R Willemsen, N Tayebi, E Sidransky

Journal: Eur. J. Hum. Genet.. ;7(4):505-9.

 

In recent years there has been increased recognition of a severe perinatal lethal form of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase. We previously reported a case of severe type 2 Gaucher disease which was seen in a medical center in Rotterdam and now ...

Last Updated: 31 Dec 1969

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The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.
 

Author(s): E Sidransky, N Tayebi, B K Stubblefield, W Eliason, A Klineburgess, G P Pizzolato, J N Cox, J Porta, A Bottani, C D DeLozier-Blanchet

Journal: J. Med. Genet.. 1996 Feb;33(2):132-6.

 

It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gaucher disease perinatal lethal" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.