Peroxisiomes disease symptoms are the signs of a genetic disorder that causes problems with the way cells in the body break down waste products. These disorders are often inherited in families and can be very severe.
Symptoms depend on the type of disease and the age at which it starts. Some people with Peroxsiomes disease don’t have any symptoms until they are older, while others may have severe symptoms from the time they are young.
Some of the symptoms of these diseases are gastrointestinal issues, respiratory problems and brain abnormalities. Some of these symptoms are very similar to those of other conditions, such as Alzheimer’s disease or Parkinson’s disease.
The most common type of inherited Peroxisomal Biogenesis Disorder is X-linked Adrenoleukodystrophy (XALD). This disorder affects the nervous system, adrenal glands and testis and occurs almost exclusively in boys.
This condition is caused by a mutation in the ABCD1 gene, which is located on the X chromosome. It is called X-linked adrenoleukodystrophy because only one copy of the abnormal gene is necessary for the disorder to occur in boys.
In this case, the defect is a deficiency in fatty acyl-CoA reductase 1. This type of peroxisomal biogenesis disorder affects about 1 in every 10,000 boys and can cause seizures and cataracts.
Other peroxisomal disorders are more mild and involve a single enzyme. Examples of these include adenomyl-CoA racemase deficiency, which causes adult-onset sensory motor neuropathy and bile acid biosynthesis defects.
Another peroxisomal disorder is a deficiency in alkyl-dihydroxyacetonephosphate synthase, which can cause learning disabilities and epilepsy.
Peroxisomes are small, lipid-rich organelles that transport and store nutrients and fats. They are found in all cells throughout the body and play an important role in a number of different metabolic pathways. They also metabolize and detoxify chemicals and toxins, and are involved in the formation of hormones.
These peroxisomal organelles are essential for normal functioning of all cells, including the brain. In particular, they are necessary for the a- and b-oxidation of fatty acids, the synthesis of ether phospholipids, and the production of bile acid and docosahexaenoic acid (C22:6omega3).
Because the cellular functions of these organelles are very important, there are a number of inherited disorders that are associated with deficiencies in peroxisomal biogenesis or function. Currently, >15 different inherited diseases have been identified that result from defects in the genes coding for proteins required for the proper functioning of peroxisomes.
The majority of these diseases are inherited in families and can be very severe. Some of these disorders are very rare, but some are more common than they appear.
Several of these disorders are grouped into three subtypes, called Infantile Refsum’s Disease (IRD), Neonatal Adrenoleukodystrophy and Zellweger syndrome spectrum, and each has a different level of severity.
In Infantile Refsum’s Disease, the symptoms usually begin during a child’s first year of life. In infants, the disorder is more severe than in adults and can affect a child’s heart, kidneys, liver and blood vessels. They can also have a slowed growth rate and large fontanelles in their bones.
