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

Lamhonwah, Anne-Marie and Barić, Ivo and Lamhonwah, Jessica and Grubić, Marina and Tein, Ingrid (2018) Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449). Clinical Case Reports, 6 (4). pp. 585-591. ISSN 2050-0904

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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).

Item Type: Article
Additional Information: © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Departments: Katedra za pedijatriju
Depositing User: Kristina Berketa
Status: Published
Creators:
CreatorsEmail
Lamhonwah, Anne-MarieUNSPECIFIED
Barić, IvoUNSPECIFIED
Lamhonwah, JessicaUNSPECIFIED
Grubić, MarinaUNSPECIFIED
Tein, IngridUNSPECIFIED
Date: 9 February 2018
Date Deposited: 20 Sep 2019 07:56
Last Modified: 26 Aug 2020 07:49
Subjects: /
Related URLs:
URI: http://medlib.mef.hr/id/eprint/3376

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