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Fatty acids are one of the body's fuels: oxidation is the process by which they are broken down to release energy. This process has many steps, each catalysed by a different enzyme. Fatty acid oxidation disorders result from deficiency of one of the enzymes.
Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. Normally, this gene is responsible for an enzyme called glucocerebrosidase that the body needs to break down a particular kind of fat called glucocerebroside. In people with Gaucher disease, the body is not able to properly produce this enzyme and the fat cannot be broken down. It then accumulates, mostly in the liver, spleen and bone marrow.
A complex chemical present in all animal fats and widespread in the body, esp. in bile, the brain, blood, adrenal glands, and nerve-fiber sheaths. It also forms deposits in blood vessels and forms gallstones.
Ketosis is a serious condition that occurs when there are raised levels of ketones in the blood.
Medium chain acyl dehydrogenase deficiency is a fatty acid oxidation disorder associated with inborn errors of metabolism. It is often known as MCAD or MCADD.
Sites listed here will primarily be about Niemann-Pick Disease. Topics covered may include causes, symptoms, diagnosis, management, research, and its effect on patients and families. Sites with more general content belong in a more general category.
"There are three recognised forms of Niemann-Pick Disease, Niemann-Pick Type A, B and C. Niemann-Pick Type A and B are caused by an enzyme deficiency, causing a build up of toxic materials in the body's cells. Niemann-Pick Type C is not caused by an enzyme deficiency, but the end result is the same; an accumulation of materials (cholesterol and other fatty acids) in the body's cells." from http://www.niemannpick.org.uk/ .
Tay-Sachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. A much rarer form of the disorder which occurs in patients in their twenties and early thirties is characterized by unsteadiness of gait and progressive neurological deterioration. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes. The condition is caused by insufficient activity of an enzyme called hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures hexosaminidase A activity. Both parents must be carriers in order to have an affected child. When both parents are found to carry a genetic mutation in hexosaminidase A, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal monitoring of pregnancies is available if desired.
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Last update: Sunday, February 1, 2009 5:04:45 AM EST - edit