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GENATLAS PHENOTYPE
last update : 22-04-2011
Symbol LPI
Location 14q11.2
Name lysinuric protein intolerance
Other name(s) dibasicamino aciduria II
Corresponding gene SLC7A7
Main clinical features
  • defective transport of cationic amino-acids with short stature, failure to thrive, hepatomegaly, osteoporosis, hypotonia, developmental delay, pulmonary insufficiency or end-stage renal disease
  • symptoms begin after weaning with refusal of feeding, vomiting, and consequent failure to thriv; hepatosplenomegaly, hematological anomalies, neurological involvement, including hyperammonemic coma are recurrent clinical features (PMID: 21308987))
  • due to defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney
  • two-thirds of the patients have interstitial changes in chest radiographs, sometimes with acute or chronic respiratory insufficiency that can lead to fatal pulmonary alveolar proteinosis and multiple-organ dysfunction syndrome (Font-Llitjós 2009)
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    metabolism/aminoacids
    Type disease
    Gene product
    Name solute carrier family 7 member 7 (SLC7A7)
    Remark(s) . the 3' region AluY repeat could be a recombination hot spot as it is involved in 38 p100 of all SLC7A7 rearranged chromosomes (Font-Llitjós 2009)