ABSTRACT
Failure to thrive; episodic hyperammonemia; vomiting; diarrhea; failure to thrive; decreased growth; osteoporosis; hepatosplenomegaly and muscular hypotonia in childhood; later on pulmonary interstitial fibrosis and respiratory insufficiency; nephritis; low concentrations of lysine and other dibasic amino acids in plasma; massive excretion of lysine in the urine along with increased excretion of ornithine and arginine; orotic aciduria; and decreased cellular transport of cationic amino acids, resulting from mutations in the gene SLC7A7 for the amino acid transporter.
