H00188 | |
H number | H00188 |
Name | Hyperlysinemia |
Description | Hyperlysinemia is an autosomal recessive metabolic disorder caused by aminoadipate-semialdehyde synthase deficiency and characterized by an abnormal increase of lysine in the blood. |
Category | Inherited metabolic disorder |
Network | nt06036(H00188) Lysine degradation |
Gene | AASS [HSA:10157] [KO:K14157] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C50.4 ICD-10: E72.3 MeSH: D020167 OMIM: 238700 |
Reference | PMID:10775527 AUTHORS Sacksteder KA, Biery 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. JOURNAL Am J Hum Genet 66:1736-43 (2000) DOI:10.1086/302919 |