Have you heard of the condition, Valinemia? Well, now you will. This particular rare metabolic condition is actually a serious condition. In fact, there are times that it can be life-threatening. In this article, you will get to know about the causes, symptoms, as well as the treatments for Valinemia. Read on to know more!
Valinemia: What is this condition?
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This condition is a rare metabolic disorder, which is characterized by the abnormally high levels of valine amino acid in the urine, as well as in the blood. The infants with this condition may experience vomiting, failure to thrive, and lack of willingness to eat. As stated earlier, the condition may become life-threatening. Thus taking a lot of good care, and knowing the different treatments for Valinemia is important.
As stated above, the condition is described by the increase of the levels of amino acids valine in the urine and blood. This is caused by the deficiency of the valine transaminase enzyme. This particular enzyme is necessary for metabolizing and breaking down of the valine. The low tone of the muscles may be experienced by some, as well as hyperactivity too.
The breaking down of the valine comprises at least seven stages and a insufficiency of the necessary enzyme in any of these stages may lead to a condition of varying rarity and severity.
Symptoms of Valinemia
The Valinemia is believed to an extremely rare condition. In fact, it is just observed and described in a few people. Furthermore, usually, Valinemia is present at birth. The symptoms in the newborn babies may include the following:
- Failure in thriving
- Frequent vomiting
- Metabolic acidosis
- Protein intolerance
Furthermore, the condition may become life-threatening if left untreated. The amino acid levels of valine in the urine and the blood may also elevate or increase. Not just that, the abnormal tone of the muscles, excessive feeling of being drowsy, and hyperactivity may also happen.
Here is a list of some other symptoms of serious cases of Valinemia:
- Poor appetite
- Increase in the valine levels in urine
- Rapid involuntary movements of the eyes
- Muscular hypotonia
- Mental retardation
- Failure in thriving
- Poor concentration
- Poor feeding habit
- Growth retardation
Causes of Valinemia
The condition is a receding genetic condition. Meaning, it occurs when a certain individual inherits a particular abnormal gene that has the same trait form of his or her parents. If that particular individual receives a (1) normal gene and then gets a (1) gene for the condition, there is a big tendency that that particular person may become a carrier of the disease. However, it will usually not show any symptoms at all.
Furthermore, there is a 25% risk that the 2 parents who carry the defective genes pass it on to their offspring. Moreover, the risk of having a child who’s a carrier just like their parents is about 50% with every pregnancy. There is also a 25% chance that a child may receive normal genes from both the parents and maybe genetically normal for a particular trait. Remember, the risk is the same for both sex.
All the individuals have about 4 to 5 abnormal genes. Those parents who are consanguineous have much higher chance than the unrelated parents to both transport the same gene that’s abnormal. This will then increase the risk of having a child that has a recessive genetic condition.
Diagnosis and Treatments for Valinemia
The diagnosis of the condition mainly depends on the specific laboratory identification, as well as the measurement of the metabolic product, which accumulate in the urine, as well as in the blood. The sophisticated chromatographic equipment is necessary for identifying these metabolites.
Due to the rarity of the condition, the information about the treatments for Valinemia in the medical literature is quite limited. But if there is something that I may suggest, it could be a healthy diet. If you have a diet that is low in valine during the infancy, you may improve the symptoms of the condition. This is just one of the few treatments for Valinemia.
Furthermore, there are some treatments therapy treatments for Valinemia that may be a great help for the betterment of the condition. One of which is the standard therapy. In this particular therapy treatment, a low in valine diet plan is introduced in the early stage of infancy. This usually improves the symptoms of the condition and reduce the concentrations of valine in the blood up to the normal levels.
This condition may be not that much serious. However, as I told you earlier, this may be life-threatening. So upon seeing the different symptoms of the condition, consulting your doctor is the next thing you should do. And always remember, with the proper care, attention and treatments, this condition will vanish and will be gone for keeps.