Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449) (CROSBI ID 323015)
Prilog u časopisu | prikaz, osvrt, kritika | međunarodna recenzija
Podaci o odgovornosti
Lamhonwah, Anne-Marie ; Barić, Ivo ; Lamhonwah, Jessica ; Grubić, Marina ; Tein, Ingrid
engleski
Attention 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 SLC22A5 revealed a premature stop codon (p.R282*) and a novel in-frame deletion (p.T440-Y449).
Attention deficit/hyperactivity disorder ; OCTN2 deficiency ; cardiomyopathy ; carnitine‐responsive ; myopathy
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Podaci o izdanju
Povezanost rada
Kliničke medicinske znanosti