There are various ways by which the human body catches a disease. Some health problems are caused due to environmental factors, some happen due to malfunction of a specific body organ, and some are inherited. The autosomal recessive disorder is one of the ways by which a trait or disease can be passed down through families. Genetic or inherited diseases are caused by one or more abnormalities in the genome that is when you inherit two changed genes or when two copies of abnormal mutation have been inherited by an autosome (a chromosome that is not a sex chromosome). Like any other genetic disease, both parents consist of a mutated gene that gets passed on to the child in this ailment. Sickle cell anemia, Tay-Sachs Disease, and cystic fibrosis are all autosomal recessive diseases. If both parents have an autosomal recessive condition, the chances of passing on the mutated genes to their children become hundred percent.
Also read: Sickle Cell Anemia: Causes and Symptoms
One such ailment, Valinemia also called hypervalinemia is a genetic recessive metabolic disorder that occurs due to elevated levels of the amino acid valine in urine and the blood. Valine is an essential amino acid that is vital for the biosynthesis of proteins in the body. This extremely important glycogenic amino acid maintains mental vigor and helps in muscle coordination of the body. The urinary and serum levels of this branched-chain amino acid which are an aliphatic and an essential amino acid found in humans (required for protein biosynthesis) gets elevated, without related elevation of other important branched-chain amino acid-leucine and isoleucine, which causes the body to malfunction. In extreme cases, this condition can cause a life-threatening situation.
Causes
Though the exact gene responsible for this rare congenital disorder is not yet known, the primary cause of valinemia is a deficiency of the enzyme valine transaminase needed for the metabolism of valine in the body. Since it is generally inherited in an autosomal recessive manner, its symptoms may be present at birth. Moreover, both males and females may be affected by this disorder.
Symptoms Of Valinemia
The symptoms of valinemia may include the following:
- Loss of appetite
- Intolerance to protein
- A sudden and an abnormally low muscle tone
- Hyperkinesia
- Excessive drowsiness at all hours of the day
- A delay in the mental and physical development of the infant
- Frequent occurrence of metabolic acidosis
- Sudden weight gain
Also Read: Acidosis: Causes, Symptoms and Treatment
Diagnosis
The diagnosis of Valinemia is done based on the following information gathered by the medical practitioners:
- A thorough physical examination
- Prenatal diagnosis by determining the activity of valine transaminases in the body
- Detailed evaluation of the patient’s medical history
- Assessment of signs and symptoms periodically
- Laboratory tests and imaging studies for weeks to months
- Biopsies
Valinemia Complications
The complication of this ailment includes excessive hypotonia and extreme drowsiness even during the day. Infants with valinemia reportedly experience a lack of appetite, frequent vomiting, inadequate weight issues, developmental hazards, and failure to thrive. Complications causing fatality may occur in some cases though it is very rare. In some cases, when the condition may be life-threatening, the patient may go into a coma.
Prognosis And Treatment
The prognosis of this metabolic disorder depends upon the severity of the signs and symptoms associated with the ailment and its complications. With not many treatment options available to completely cure valinemia, a low valine diet helps reduce severe symptoms and avoid complications leading to fatalities. Dietary restrictions during the stage of early infancy and timely diagnosis significantly improve the symptoms and lower the elevated valine concentrations in the blood thus bringing them down to normal levels.
