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Background Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria. Case characteristics A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia. Outcome Genetic analysis revealed a homozygous mutation, c.158C>T (p.Ser53Leu) in exon 1 of SLC7A7 gene...
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