Hypervalinemia: Difference between revisions
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* {{cite journal |author=Dancis J, Hutzler J, Tada K, Wada Y, Morikawa T, Arakawa T |title=Hypervalinemia. A defect in valine transamination |journal=Pediatrics |volume=39 |issue=6 |pages=813–817 |year=1967 |pmid=6067402 |doi=}} | * {{cite journal |author=Dancis J, Hutzler J, Tada K, Wada Y, Morikawa T, Arakawa T |title=Hypervalinemia. A defect in valine transamination |journal=Pediatrics |volume=39 |issue=6 |pages=813–817 |year=1967 |pmid=6067402 |doi=}} | ||
* {{cite journal |author=Tada K, Wada Y, Arakawa T |title=Hypervalinemia. Its metabolic lesion and therapeutic approach |journal=Am. J. Dis. Child. |volume=113 |issue=1 |pages=64–67 |year=1967 |pmid=6066688 |doi=}} | * {{cite journal |author=Tada K, Wada Y, Arakawa T |title=Hypervalinemia. Its metabolic lesion and therapeutic approach |journal=Am. J. Dis. Child. |volume=113 |issue=1 |pages=64–67 |year=1967 |pmid=6066688 |doi=}} | ||
Latest revision as of 18:25, 4 September 2012
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| Valine | |
| ICD-9 | 270.3 |
| OMIM | 277100 |
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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.
See also
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.