KEGG   DISEASE: Hartnup disorder
Entry
H00843                      Disease                                
Name
Hartnup disorder
Description
Hartnup disorder is an autosomal recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia, and renal aminoaciduria. It is caused by hereditary abnormalities in the neutral amino acid transporter B0AT1 (SLC6A19) in apical membrane.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C60  Disorders of amino acid absorption or transport
     H00843  Hartnup disorder
Pathway
hsa04974  Protein digestion and absorption
hsa04978  Mineral absorption
Gene
SLC6A19 [HSA:340024] [KO:K05334]
Other DBs
ICD-11: 5C60.Y
MeSH: D006250
OMIM: 234500
Reference
PMID:15681018
  Authors
Kraut JA, Sachs G
  Title
Hartnup disorder: unraveling the mystery.
  Journal
Trends Pharmacol Sci 26:53-5 (2005)
DOI:10.1016/j.tips.2004.12.003
Reference
PMID:19967017
  Authors
Patel AB, Prabhu AS
  Title
Hartnup disease.
  Journal
Indian J Dermatol 53:31-2 (2008)
DOI:10.4103/0019-5154.39740
Reference
PMID:19472175
  Authors
Broer S
  Title
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
  Journal
IUBMB Life 61:591-9 (2009)
DOI:10.1002/iub.210
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