Have you heard of a condition called Valinemia? Well, now you have. This particularly rare metabolic condition is actually quite serious condition, even life-threatening at times. In this article, you will get to know the causes, symptoms, and treatments for Valinemia. Read on to learn more!
Valinemia: What Is This Condition?
This condition is a rare metabolic disorder, characterized by abnormally high levels of valine amino acid in the urine and blood. Infants with this condition may experience vomiting, failure to thrive and unwillingness to eat. As stated earlier, the condition may become life-threatening, so it’s important to take good care of yourself and know the different treatment options.
As established, the condition is marked by an increase in levels of valine amino acids in the urine and blood. This is caused by a deficiency in the valine transaminase enzyme, which is necessary for metabolizing and breaking down valine. This valine breakdown occurs in seven stages, and any shortage in the enzyme necessary to do it can lead to a condition of varying severity. Some may experience low muscle tone, some hyperactivity and some both.
Symptoms of Valinemia
Valinemia is believed to be an extremely rare condition observed in few people. It is usually present at birth. The symptoms in newborn babies may include the following:
- Failure to thrive
- 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 increase. Sufferers may also experience abnormal muscle tone, excessive feelings of drowsiness and hyperactivity.
Here is a list of other symptoms of more serious cases of Valinemia:
- Poor appetite
- Increase in the valine levels in urine
- Rapid involuntary movements of the eyes
- Muscular hypotonia
- Mental retardation
- Failure to thrive
- Poor concentration
- Poor eating habits
- Growth retardation
Causes of Valinemia
The condition is a recessive genetic condition, meaning it occurs when a certain individual inherits a particular abnormal gene from his or her parents. If that particular individual receives a normal gene from one parent and a abnormal gene from the other, there is still a high chance that they may be a carrier for the disease. However, it will usually not show any symptoms.
There is a 25% risk that 2 parents who carry the defective gene pass it on to their offspring, and the risk of having a child who’s a carrier is about 50% with every pregnancy. There is also a 25% chance that a child may receive normal genes from both parents. This risk is the same no matter the sex of the baby.
All affected individuals have about 4 to 5 abnormal genes. Those parents who are consanguineous have much a higher chance than unrelated parents to both transport the same abnormal gene, which will then increase the risk of having a child with the 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 metabolic product which accumulates in the urine and blood. Sophisticated chromatographic equipment is necessary for identifying these metabolites.
Due to the rarity of the condition, information about treatment for Valinemia in medical literature is quite limited. But, if there is something that I may suggest, it would be a healthy diet. If you have a diet that is low in valine during infancy, you may improve the symptoms of the condition. This is just one of the few treatments for Valinemia.
Furthermore, there are some therapy treatments for Valinemia which may be a great help. One of which is the standard therapy, where a low-valine diet plan is introduced in the early stage of infancy. This usually improves the symptoms of the condition and reduces the concentrations of valine in the blood to return them to normal levels.
This condition may be not that serious. However, as I told you earlier, it may also be life-threatening. So if you see any symptoms, you should immediately consult your doctor. Always remember, with proper care, attention and treatment, this condition will vanish for good.