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Case Reports
. 2013 Jan 15;9(1):71-2.
doi: 10.5664/jcsm.2346.

Sodium oxybate intolerance associated with familial serum acylcarnitine elevation

Jon Berner  1
Affiliations
Case Reports

Sodium oxybate intolerance associated with familial serum acylcarnitine elevation

Jon Berner. J Clin Sleep Med. .

Abstract

Our case describes clinical features of two families defined by joint phenotypes: sodium oxybate intolerance and elevated serum acylcarnitines. Oxybate intolerance variably presents as either cervical dystonia or sleep-related eating disorder. Our objective is to identify biological markers which predict a poor response to sodium oxybate as a treatment for disturbed sleep. Familial inheritance pattern, genotype analysis, multiorgan system involvement, and response to treatment suggest the presence of a secondary cause of fatty oxidation defect, i.e., mitochondrial disorder. Our case report supports the possible conclusion that variance in human mitochondrial metabolism may affect sodium oxybate tolerability.

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