Lowe Syndrome Info
Lowe Syndrome Condition and Symptoms
Lowe Syndrome occurs predominantly in males and affects the kidneys, eyes and brain. Another name for this condition is oculocerbrorenal syndrome of Lowe (ORCL). Infants can be born with this disease and the ones that are come out with congenital cataracts, which are a thick cloud that coats both of the eyes. If infants are in fact born with Lowe Syndrome, this typically leads to other eye conditions and abnormalities leading to loss of vision and infantile glaucoma. In other individuals who may have Lowe Syndrome, the effects of it can vary on a broad scale. Some may be developmentally delayed, while others experience intellectual development which can span from normal to immensely impaired.
Although Lowe Syndrome is not all that common, only affecting about 1 in 500,000 people, this condition and its symptoms are nothing to take light-heartedly. Children who are born with this particular syndrome have shown to have very weak muscle tone from the start. The scientific terminology for this is neonatal hypotonia. With weakened muscles this can lead to problems with eating and feeding, breathing, delayed motor skills which can include problems with walking, talking, sitting and standing. Another topic of concern is severe behavioral problems as well as seizures that can occur in children who are born with the condition.
The kidney abnormalities that occur are commonly known as renal Fanconi Syndrome. When someone suffers from this illness, instead of the kidneys reabsorbing essential nutrients and filtering them back into the bloodstream, the nutrients are excreted in the urine, therefore leaving the body without the important nutrients that it needs to thrive.
There are numerous problems that surround improper kidney function such as dehydration, increased urination and infections amongst the bladder and urinary tract. Depleted salt and nutrient levels affect bone structure, mostly in the legs. All of these effects, in severe cases, when combined together can lead to death.
Causes of Lowe Syndrome
The main cause of Lowe Syndrome is a genetic mutation on the ORCL gene. This particular gene is solely responsible for providing instruction for the body to make enzymes that modify fat molecules called membrane phospholipids. ORCL helps transport the proper amount of substances to the cell membranes while also regulating the actin cytoskeleton which is responsible for cell shape and movement.
Researchers are currently still doing studies to fully understand how the ORCL mutations actually cause Lowe Syndrome and what parts of the body that this syndrome specifically attacks. It is unclear as to why Lowe Syndrome only attacks the brain, eyes, and kidneys because the ORCL enzyme is present throughout the whole entire body.
Unfortunately this condition can be inherited and it is in the X-linked pattern. This is a mutation in the X chromosome, of which males carry one and females carry two. If directly coming from the female, the mutation must be affecting both of her X chromosomes in order to pass on the condition down. Woman can be carriers of Lowe Syndrome, but not necessarily pass it on to her young. Any conditions that are X-linked typically affect males more so than females.
*Text contribution courtesy of socialsecuritydisability.tv.
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