KEGG   DISEASE: Hyperlysinemia
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00188  Hyperlysinemia
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
     H00188  Hyperlysinemia
Pathway
hsa00300  Lysine biosynthesis
hsa00310  Lysine degradation
Gene
AASS; aminoadipate-semialdehyde synthase [HSA:10157] [KO:K14157]
Other DBs
ICD-11: 5C50.4
ICD-10: E72.3
MeSH: D020167
OMIM: 238700
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)
DOI:10.1086/302919
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