Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440 ‐Y449)
Key Clinical Message
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).
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).
Source: Clinical Case Reports - Category: General Medicine Authors: Anne ‐Marie Lamhonwah, Ivo Barić, Jessica Lamhonwah, Marina Grubić, Ingrid Tein Tags: Case Report Source Type: research
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