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lysinuric protein intolerance
Epidemiology:
- found mainly in Finland & Italy
Pathology:
- defect in the plasma membrane transport of dibasic amino acids
Genetics:
- autosomal recessive
- mutation in gene for solute carrier family 7 member 7 (SLC7A7)
Clinical manifestations:
- poor feeding, vomiting, diarrhea
- episodes of hyperammoniaemic coma
- growth retardation
- hepatosplenomegaly
- osteoporosis
- life-threatening pulmonary alveolar proteinosis
Related
lysine
solute carrier family 7 member 7; Y+L amino acid transporter 1; monocyte amino acid permease 2; MOP-2; y(+)L-type amino acid transporter 1; Y+LAT1; y+LAT-1 (SLC7A7)
General
amino acid inborn error of metabolism
Database Correlations
OMIM correlations
References
OMIM :accession 222700