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Hypervalinemia

Field	Value
name	Hypervalinemia
synonyms	Valinemia or Valine transaminase deficiency
image	L-valine-skeletal.svg
caption	Valine
symptoms	loss of appetite, vomiting, hypotonia, dehydration and failure to thrive.
onset	1–2 years

Hypervalinemia is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine. It is caused by a deficiency of the enzyme valine transaminase.

Presentation

Presenting in infancy, symptoms include lack of appetite, vomiting, dehydration, hypotonia and failure to thrive.

Genetics

Hypervalinemia is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Diagnosis

References

(1963). "Idiopathic hypervalinemia: probably a new entity of inborn error of valine metabolism". Tohoku J. Exp. Med..
"Valinemia {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
{{OMIM. 277100
(1967). "Hypervalinemia. A defect in valine transamination". Pediatrics.
(1967). "Hypervalinemia. Its metabolic lesion and therapeutic approach". Am. J. Dis. Child..

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

amino-acid-metabolism-disorders autosomal-recessive-disorders rare-diseases

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