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

More general terms

• amino acid inborn error of metabolism

Additional terms

• 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)

Database

• OMIM: https://mirror.omim.org/entry/222700
• OMIM: https://mirror.omim.org/entry/603471
• OMIM: https://mirror.omim.org/entry/605814