Journal ArticleOPEN ACCESS

Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)

  • Lamhonwah A
  • Barić I
  • Lamhonwah J
  • et al.
Clinical Case Reports (2018) 6(4) 585-591
DOI: 10.1002/ccr3.1316
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Abstract

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).

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APA

Lamhonwah, A., Barić, I., Lamhonwah, J., Grubić, M., & Tein, I. (2018). Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449). Clinical Case Reports, 6(4), 585–591. https://doi.org/10.1002/ccr3.1316

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