National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Valinemia

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I am a school health nurse and am having difficulty finding information on this condition. Any information you can give will be appreciated. I'm looking for signs and symptoms and treatment, and would also like any information on its effects in functioning in a school setting.

The following information may help to address your question:


What is valinemia?

Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzyme valine transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes a diet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.[1]
Last updated: 11/19/2014

What are the signs and symptoms of valinemia?

Valinemia is thought to be extremely rare and has been described in only a few people. The condition is reportedly present from birth. Symptoms in the newborn period include lack of appetite, protein intolerance, metabolic acidosis, frequent vomiting, failure to thrive, and/or coma. The condition can become life-threatening. Abnormally low muscle tone (hypotonia); hyperkinesia; hyperactivity; excessive drowsiness; and delayed mental and physical development have also been reported.[1][2]
Last updated: 11/19/2014

How might valinemia be treated?

Due to the rarity of valinemia, information about treatment in the medical literature is very limited. A diet low in valine introduced during early infancy is thought to improve symptoms of the condition and lower valine concentrations in the blood to normal levels.[1]
Last updated: 11/19/2014

Is there information available about the effects of valinemia in a school setting?

We are not aware of information in the medical literature about the effects of valinemia in a school setting. To our knowledge, the few cases reported in the literature have only described infants or very young children (not yet of school age).
Last updated: 11/19/2014

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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  1. Valinemia. NORD. September 17, 2007; http://rarediseases.org/rare-disease-information/rare-diseases/byID/627/viewAbstract. Accessed 11/19/2014.
  2. Keiya Tada, yoichi Matsubara. Hypervalinemia. Encyclopedia of Molecular Mechanisms of Disease. 2009; 958. Accessed 11/19/2014.