KEGG   DISEASE: Hypertryptophanemia
Entry
H02545                      Disease                                
Name
Hypertryptophanemia
Description
Hypertryptophanemia (HYPTRP) is a rare inherited metabolic disorder caused by congenital defects of tryptophan metabolism. Tryptophan is a precursor to the neurotransmitters serotonin and melatonin. It has been described that some patients had growth and developmental delay, ataxia, and photosensitive skin rash. Recently, HYPTRP due to tryptophan 2,3-dioxygenase deficiency has been reported.
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
     H02545  Hypertryptophanemia
Pathway
hsa00380  Tryptophan metabolism
hsa01240  Biosynthesis of cofactors
Gene
(HYPTRP) TDO2 [HSA:6999] [KO:K00453]
Other DBs
ICD-11: 5C50.3
ICD-10: E70.8
MeSH: D000592
OMIM: 600627
Reference
PMID:6883719
  Authors
Snedden W, Mellor CS, Martin JR
  Title
Familial hypertryptophanemia, tryptophanuria and indoleketonuria.
  Journal
Clin Chim Acta 131:247-56 (1983)
DOI:10.1016/0009-8981(83)90094-3
Reference
PMID:28285122 (HYPTRP)
  Authors
Ferreira P, Shin I, Sosova I, Dornevil K, Jain S, Dewey D, Liu F, Liu A
  Title
Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.
  Journal
Mol Genet Metab 120:317-324 (2017)
DOI:10.1016/j.ymgme.2017.02.009
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