Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures. If the … See more There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common. Siblings, even … See more Gaucher disease can result in: 1. Delays in growth and puberty in children 2. Gynecological and obstetric problems 3. Parkinson's disease 4. Cancers such as myeloma, leukemia and lymphoma See more Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher … See more People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease. See more WebJan 25, 2024 · Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.

About Gaucher Disease - Genome.gov

WebGaucher disease (GD) is a rare, inherited disorder that affects the body's ability to break down glucocerebroside molecules, because there is a lack of an enzyme called glucocerebrosidase that normally breaks down this molecule. This results in the accumulation of glucocerebrosidase in the lysosomes of macrophages, and other … WebLysosomal storage diseases (LSDs) comprise a group of related conditions characterized by inappropriate lipid storage in lysosomes, due to specific enzyme deficiencies. Gaucher disease was the first of these disorders … suzuki 150 outboard

Gaucher Disease Characteristics, Clinical Presentation, Treatments …

WebA type of leukodystrophy which affects myelination of CNS axons and is characterized by absence or reduction in presence of peroxisomes in the kidney, liver, and brain. Hepatomegaly, increased levels of Cu and Fe in blood, defective vision, and inability to swallow are all common symptoms. Kartagener Syndrome. WebGaucher Disease. Gaucher disease is a rare genetic disorder driven by mutations in the GBA1 gene, that like PD-GBA, can cause lysosomal dysfunction and have a wide range of effects on organs throughout the body. Gaucher disease and PD-GBA share the same underlying genetic mutation that causes a reduction in the enzyme beta … WebFabry disease: It affects your ability to make alpha-galactosidase A. This enzyme breaks down a fatty substance called globotriaosylceramide. Without the enzyme, this fat builds up in cells and ... bari apulia italy