HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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

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).
AuthorsAnne-Marie Lamhonwah, Ivo Barić, Jessica Lamhonwah, Marina Grubić, Ingrid Tein
JournalClinical case reports (Clin Case Rep) Vol. 6 Issue 4 Pg. 585-591 (04 2018) ISSN: 2050-0904 [Print] England
PMID29636919 (Publication Type: Case Reports)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: