Hypervalinemia
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Hypervalinemia Classification and external resources
Valine
ICD-9	270.3
OMIM	277100

Hypervalinemia (occasionally called valinemia) 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.

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

Hypervalinemia has an autosomal recessive pattern of inheritance.

See also

• Isovaleric acidemia
• Maple syrup urine disease
• Propionic acidemia

References

• Dancis J, Hutzler J, Tada K, Wada Y, Morikawa T, Arakawa T (1967). "Hypervalinemia. A defect in valine transamination". Pediatrics 39 (6): 813–817. PMID 6067402. 
• Tada K, Wada Y, Arakawa T (1967). "Hypervalinemia. Its metabolic lesion and therapeutic approach". Am. J. Dis. Child. 113 (1): 64–67. PMID 6066688. 
• Wada Y, Tada K, Minagawa A, Yoshida T, Morikawa T, Okamura T (1963). "Idiopathic hypervalinemia: probably a new entity of inborn error of valine metabolism". Tohoku J. Exp. Med. 81: 46–55. PMID 14077060. 

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