Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449).
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ABSTRACT:
SUBMITTER: Lamhonwah AM
PROVIDER: S-EPMC5889263 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Publications
Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449).
Lamhonwah Anne-Marie AM Barić Ivo I Lamhonwah Jessica J Grubić Marina M Tein Ingrid I
Clinical case reports 20180209 4
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). ...[more]
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