Peroxisomal Sentence Examples
Martinez M, Vazquez E. MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders.
Peroxisomal disorders are a group of congenital diseases characterized by the absence of normal peroxisomes in the cells of the body.
There are about 25 known peroxisomal disorders, although the number of diseases that are considered to be separate, distinct peroxisomal disorders varies among researchers and healthcare practitioners.
The peroxisomal disorders that include effects on the growth of the myelin sheath are considered to be part of a group of genetic disorders referred to as leukodystrophies.
Peroxisomal disorders form a heterogeneous disease group, with different degrees of severity.Advertisement
Most peroxisomal disorders are inherited autosomal recessive diseases.
Peroxisomal disorders occur in all countries, among all races and ethnic groups.
X-ALD is the most common of the peroxisomal disorders, affecting about one in 20,000 males.
In peroxisomal single-enzyme disorders, the peroxisome is intact and functioning, but there is a defect in only one enzymatic process, with only one corresponding biochemical abnormality.
These disorders, however, can be as severe as those in which peroxisomal activity is nearly or completely absent.Advertisement
Peroxisomal disorder patients have decreased muscle tone (hypotonia), which in the most severe cases is generalized, while in less severe cases, is usually restricted to the neck and trunk muscles.
Failure to thrive is a common characteristic of patients with peroxisomal disorder, along with an enlarged liver, abnormalities in liver enzyme function, and loss of fats in stools (steatorrhea).
Peroxisomal disorders are also associated with facial abnormalities, including high forehead, frontal bossing (swelling), small face, low set ears, and slanted eyes.
In addition to physical abnormalities seen in other types of peroxisomal disorders, common symptoms of X-ALD also include behavioral changes such as abnormal withdrawal or aggression, poor memory, dementia, and poor academic performance.
In addition to X-ALD, there are at least ten other single-enzyme peroxisomal disorders, each with its own specific abnormalities.Advertisement
A healthcare provider should be contacted if a child develops symptoms suggestive of peroxisomal disorder or if a child already diagnosed with a peroxisomal disorder shows signs of worsening disease.
If peroxisomal disorders are suspected, blood plasma assays for VLCFAs, phytanic acid, and pipecolic acid are conducted.
It is possible to diagnose peroxisomal disorders in utero.
For many of the peroxisomal disorders, there is no standard course of treatment, with supportive treatment strategies focusing on alleviation of complications and symptoms.
Physical and psychological therapies are important for all types of peroxisomal disorders.Advertisement
In general, most treatments that are attempted for peroxisomal disorders are dietary, whereby attempts are made to artificially correct biochemical abnormalities associated with the disorders.
Some results have indicated that if given soon enough during development, DHA therapy may prevent some of the devastating consequences of peroxisomal disorders, including the loss of vision and brain damage.
Peroxisomal disorders range from life-threatening to cases in which people may function with some degree of mental and motor delays.
As of 2004, there was not yet a cure for peroxisomal disorders.
It is not possible to prevent the transmission of an abnormal peroxisomal gene from parent to child or spontaneous mutations that may arise.Advertisement
Numerous professional and parent-led organizations exist to support parents as they first learn of a peroxisomal disorder diagnosis and as they provide care for their child.