KEGG   DISEASE: H00188Help
Entry
H00188                      Disease                                

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 disease; Nervous system disease
BRITE hierarchy
Pathway
Lysine biosynthesis
Lysine degradation
Gene
AASS; aminoadipate-semialdehyde synthase [HSA:10157] [KO:K14157]
Marker
Lysine [CPD:C00047]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  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)

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