KEGG   DISEASE: Saccharopinuria
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 disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01242  Saccharopinuria
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06036  Lysine degradation
   H01242  Saccharopinuria
Pathway
hsa00310  Lysine degradation
Network
nt06036 Lysine degradation
Gene
AASS [HSA:10157] [KO:K14157]
Other DBs
ICD-11: 5C50.4
ICD-10: E72.3
MeSH: C537218
OMIM: 268700
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
Reference
PMID:463877
  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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