Valinemia is a rare metabolic disease marked by unusually elevated amounts of the amino acid valine in the urine and blood.
- Infants with valinemia are said to have a poor appetite, puking, and fail to thrive. In rare situations, the condition is potentially fatal.
- There have also been reports of low muscular tone (hypotonia), excessive sleepiness, hyperactivity, and developmental delay.
- Valinemia is caused by a lack of the enzyme valine transaminase, which is required for valine breakdown (metabolism) in the body.
- It is inherited autosomal recessively; however, the gene laible for the disorder is unknown.
- A low-valine diet (started during early infancy) frequently improves symptoms and restores valine levels to normal.
- Parents who are close relatives (consanguineous) have a higher chance of carrying the same abnormal gene, increasing the risk of having children with a recessive genetic disorder.
Insufficient weight gain,Delayed attainment of developmental milestones,Coma,Inability to thrive
Appetite loss,Protein sensitivity,Acidosis of the metabolism,Vomiting frequently,Muscle tone that is abnormally low (hypotonia),Hyperkinesia,Hyperactivity,Drowsiness that is excessive,Mental and physical growth is delayed