PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 23890588-12 2013 Mutational screening of the AASS gene revealed that case 1 was a compound heterozygote for c.2662 + 1_2662 + 5delGTAAGinsTT and c.874A>G and that case 2 was a compound heterozygote for c.976_977delCA and c.1925C>G. In conclusion, we present two children with hyperlysinemia type I and neurological impairment in which implementation of lysine-restricted diet achieved a mild improvement of symptoms but did not reverse cognitive impairment. Lysine 270-276 aminoadipate-semialdehyde synthase Homo sapiens 28-32