Not all people are born the same. It may look like every one of us are born normal, but there are some people who were born with minor to major issues in their bodies; may it be medical or physical issues. In some cases, genetics play a huge role when it comes to how a person is born, but there are also times when complications happen without the impact of genetics. Such a situation like having asparagine synthetase deficiency is one of the rare conditions that are associated with mutations and imbalance of genes.
Let’s get to know more about this rare condition – what it is, how it happens, and many other facts regarding asparagine synthetase deficiency.
Things to Know About Asparagine Synthetase Deficiency
Other than being a rare neurological problem, asparagine synthetase deficiency also affects the person’s physical appearance; specifically on the part of the head. People who encounter this problem are bound to experience it once they are born, it is also said to worsen in time.
To identify people with the condition there are a few physical signs that they may notice since the condition is directly connected to the brain and its surrounding tissues. For example, asparagine synthetase deficient people are characterized by a smaller head circumference compared to others; this condition is called microcephaly.
The main reason why some people get microcephaly is due to either a genetic issue that caused the head to look that way because of damaged brain tissues (like asparagine deficiency) or it may be because of the side effects of certain drugs which also led to the damage of the brain tissue; hence the appearance of a smaller head. There may also be a time in the future that the head circumference will become even smaller and worsen as the disease completely destroys and damages the growth and development of brain tissues.
Neurological and Nervous System Issues
Other than affecting the person’s physical appearance, people with this condition also suffer from extreme neurological and nervous system issues. They are completely different from normal people who can easily do and handle their daily tasks well. For people with this deficiency, there will never be a normal day for them. In their case, normal is suffering from problems in their motor and mental skills; which are very important for the standard daily functioning. Those who are affected are not able to communicate with other people; and basic routine like sitting, crawling, and walking is a very hard challenge that most of them do not accomplish. As time goes by, in case they somehow managed to develop a few skills, they still tend to lose their acquired skills because of the disease.
Actually, the affected individuals will encounter more than the mentioned conditions. When it comes to their movements, they will be hard to control since their muscles are turning weaker as the sickness progresses; this condition is called hypotonia. In terms of their reflexes, they become more exaggerated and in turn, there will be a series of involuntary movements and reactions; this is called hyperreflexia. As they live with hypotonia and hyperreflexia, their muscles continue to deteriorate and in most cases, it leads to stiffness of the muscles and even paralysis of either the arms, legs or both.
Moreover, there are some who may get to experience seizures or epilepsy. Each individual encounter different types of seizures, but the most common ones consist of the following effects: loss of consciousness, inability to move muscles, and convulsions. There may also be frequent muscle twitches which happen involuntarily and the muscles become tense and more contracted than usual. For some individuals affected by asparagine synthetase deficiency, they get either partial or full blindness due to the damaged part of the brain that is responsible for the eyesight and proper vision; this condition is called occipital cortex or cortical blindness.
As far as the illness is considered, there are too much health conditions that individuals with asparagine synthetase cortex are suffering from. Because of its effect on the brain getting damaged, it is almost impossible for people with the condition to survive until they finish their childhood. Their life expectancy is usually just a few years, especially if there was no treatment given immediately. It is also possible that individuals with this condition may be at risk to death as early as infancy.
What Causes Asparagine Synthetase Deficiency?
There are rare instances when the genes known as ASNS gets mutated, and this is what mainly causes deficiency. ASNS is the gene which is responsible for instructing the production of enzymes named asparagine synthetase, these enzymes are considered important in the body since they are the most active converters of specific amino acid. Once there is a problem with this process, the body gets compromised and that is how medical conditions start.
How Often Does It Occur?
Asparagine synthetase deficiency is a rare condition, there is actually no need to get too concerned since the people who are affected do not necessarily reach an alarming rate yet. So far, it is said that only about 20 or more individuals are known to have had this kind of disease.
The Inheritance Pattern of Asparagine Synthetase Deficiency
In the case of asparagine synthetase deficiency, it is acquired by children hereditarily from their parents. It happens by the process called the autosomal recessive pattern, wherein the child gets to inherit both abnormal genes from the parents. Although the parents are the main carrier of the mutated genes responsible for the disease, they are not usually affected by it. There will be no signs or symptoms of the parents that they have these kinds of genes in them.
Is There a Treatment?
Unfortunately, there is no known treatment for asparagine synthetase deficiency as of this moment. Although it is said that this disease is connected to a deficiency in the enzyme asparagine synthetase, there was no studies or research that was done to prove if supplying the deficiency can at least help in its treatment.
However, there were a few trials wherein the patient are given some asparagine supplements to see if it can somehow tone down a few of the symptoms; specifically the seizures. Unfortunately, the results were a mess. Instead of relieving and minimizing the seizures encountered, it is said that they got worse and there were additional side effects too such as irritability and the occurrence of some sleep disturbance.