Hyperlysinemia: Difference between revisions
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'''Hyperlysinemia''' is an [[autosomal]] [[recessive]]<ref>{{cite journal |pmid=10775527 |year=2000 |month=June |author=Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT |title=Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia |volume=66 |issue=6 |pages=1736-1743 |pmc=1378037 |doi=10.1086/302919 |journal=American journal of human genetics}}</ref> [[metabolic disorder]] characterized by an abnormal increase of [[lysine]] in the [[blood]], but appears to be benign. It can be associated with [[saccharopine dehydrogenase]]. | '''Hyperlysinemia''' is an [[autosomal]] [[recessive]]<ref>{{cite journal |pmid=10775527 |year=2000 |month=June |author=Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT |title=Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia |volume=66 |issue=6 |pages=1736-1743 |pmc=1378037 |doi=10.1086/302919 |journal=American journal of human genetics}}</ref> [[metabolic disorder]] characterized by an abnormal increase of [[lysine]] in the [[blood]], but appears to be benign. It can be associated with [[saccharopine dehydrogenase]]. | ||
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Revision as of 16:09, 9 August 2012
| Hyperlysinemia | |
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| lysine | |
| ICD-9 | 270.7 |
| OMIM | 238700 |
| DiseasesDB | 33215 |
| MeSH | D020167 |
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Hyperlysinemia is an autosomal recessive[1] metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It can be associated with saccharopine dehydrogenase.
See also
References
- ↑ Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT (2000). "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia". American journal of human genetics. 66 (6): 1736–1743. doi:10.1086/302919. PMC 1378037. PMID 10775527. Unknown parameter
|month=ignored (help)