PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 23589815-3 2013 We report a 30-day-old patient with mutations in the SLC19A3 gene who presented with acute encephalopathy and increased level of lactate in the blood (8.6 mmol/L) and cerebrospinal fluid (7.12 mmol/L), a high excretion of alpha-ketoglutarate in the urine, and increased concentrations of the branched-chain amino acids leucine and isoleucine in the plasma. Leucine 319-326 solute carrier family 19 member 3 Homo sapiens 53-60