KEGG   DISEASE: Lysinuric protein intolerance
Entry
H00899                      Disease                                
Name
Lysinuric protein intolerance
  Supergrp
Secondary hyperammonemia [DS:H01400]
Description
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. Patients affected by this disorder, in general, come to medical attention from early on in life with several significant problems including failure to thrive and intellectual impairment. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family.
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
     H00899  Lysinuric protein intolerance
Pathway
hsa04974  Protein digestion and absorption
Gene
SLC7A7 [HSA:9056] [KO:K13867]
Other DBs
ICD-11: 5C60.Y
MeSH: C562687
OMIM: 222700
Reference
PMID:18200002
  Authors
Camargo SM, Bockenhauer D, Kleta R
  Title
Aminoacidurias: Clinical and molecular aspects.
  Journal
Kidney Int 73:918-25 (2008)
DOI:10.1038/sj.ki.5002790
Reference
PMID:21308987
  Authors
Sebastio G, Sperandeo MP, Andria G
  Title
Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
  Journal
Am J Med Genet C Semin Med Genet 157:54-62 (2011)
DOI:10.1002/ajmg.c.30287
Reference
PMID:17764084
  Authors
Sperandeo MP, Andria G, Sebastio G
  Title
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
  Journal
Hum Mutat 29:14-21 (2008)
DOI:10.1002/humu.20589
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