KEGG   DISEASE: H01242Help
Entry
H01242                      Disease                                

Name
Saccharopinuria
Description
Saccharopinuria is a metabolic disorder caused by a defect in a bifunctional protein with lysine-ketoglutarate reductase (LKR) activity and saccharopine dehydrogenase (SDH) activity, aminoadipic semialdehyde synthase (AASS), which catalyzes the first two steps in the lysine-degradation pathway. Patients with this disorder have both hyperlysinemia and saccharopinuria, although the saccharopinuria is much more severe. It seems likely that this disorder results from specific mutations in the portion of AASS encoding SDH, which could explain the high levels of saccharopine, compared with that in patients with hyperlysinemia [DS:H00188].
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Lysine degradation
Gene
AASS [HSA:10157] [KO:K14157]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:10775527 (description, gene)
  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)
Reference
PMID:463877 (description)
  Authors
Dancis J, Hutzler J, Cox RP
  Title
Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology.
  Journal
Am J Hum Genet 31:290-9 (1979)

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