Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2013-01-15

Sodium oxybate intolerance associated with familial serum acylcarnitine elevation.

Jon Berner

Index: J. Clin. Sleep Med. 9(1) , 71-2, (2013)

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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.