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.R...

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Detalles Bibliográficos
Autores principales: Lamhonwah, Anne‐Marie, Barić, Ivo, Lamhonwah, Jessica, Grubić, Marina, Tein, Ingrid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889263/
https://www.ncbi.nlm.nih.gov/pubmed/29636919
http://dx.doi.org/10.1002/ccr3.1316
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author Lamhonwah, Anne‐Marie
Barić, Ivo
Lamhonwah, Jessica
Grubić, Marina
Tein, Ingrid
author_facet Lamhonwah, Anne‐Marie
Barić, Ivo
Lamhonwah, Jessica
Grubić, Marina
Tein, Ingrid
author_sort Lamhonwah, Anne‐Marie
collection PubMed
description 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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spelling pubmed-58892632018-04-10 Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449) Lamhonwah, Anne‐Marie Barić, Ivo Lamhonwah, Jessica Grubić, Marina Tein, Ingrid Clin Case Rep Case Reports 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). John Wiley and Sons Inc. 2018-02-09 /pmc/articles/PMC5889263/ /pubmed/29636919 http://dx.doi.org/10.1002/ccr3.1316 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Lamhonwah, Anne‐Marie
Barić, Ivo
Lamhonwah, Jessica
Grubić, Marina
Tein, Ingrid
Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)
title Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)
title_full Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)
title_fullStr Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)
title_full_unstemmed Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)
title_short Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)
title_sort attention deficit/hyperactivity disorder as an associated feature in octn2 deficiency with novel deletion (p.t440‐y449)
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889263/
https://www.ncbi.nlm.nih.gov/pubmed/29636919
http://dx.doi.org/10.1002/ccr3.1316
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