H00843 | |
H number | H00843 |
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 |
Network | - |
Gene | SLC6A19 [HSA:340024] [KO:K05334] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C60.Y ICD-10: E72.0 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 PMID:19967017 AUTHORS Patel AB, Prabhu AS TITLE Hartnup disease. JOURNAL Indian J Dermatol 53:31-2 (2008) DOI:10.4103/0019-5154.39740 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 |