biostudies-literatureUnknown6(4)Lamhonwah AMRare Diseases FoundationThis boy presented with ADHD at 3 years and at 8 years was hyperactive with no documented hypoglycemia and had myopathy, cardiomyopathy, and very low serum carnitine. L-carnitine improved his exercise intolerance, cardiomyopathy, and behavior. Analysis of <i>SLC22A5</i> revealed a premature stop codon (p.R282*) and a novel in-frame deletion (p.T440-Y449).Clinical case reports585-591https://www.ebi.ac.uk/biostudies/studies/S-EPMC5889263biostudies-literatureAttention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449).PMC5889263Lamhonwah JLamhonwah AMGrubic MTein IBaric IfalseAttention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449).This boy presented with ADHD at 3 years and at 8 years was hyperactive with no documented hypoglycemia and had myopathy, cardiomyopathy, and very low serum carnitine. L-carnitine improved his exercise intolerance, cardiomyopathy, and behavior. Analysis of <i>SLC22A5</i> revealed a premature stop codon (p.R282*) and a novel in-frame deletion (p.T440-Y449).2018-01-01T00:00:00Z2018 Apr2025-04-04T13:59:35.291Z2019-03-26T23:31:15ZS-EPMC58892632963691910.1002/ccr3.1316