Hyperlysinemia
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.
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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
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