title: Sodium oxybate intolerance associated with familial serum acylcarnitine elevation.
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.
authors: Woodinville Psychiatric Associates, Woodinville, WA 98072, USA. jonbernermd@yahoo.com
authors: Jon
authors: J
authors: Berner
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency / Q000235:genetics; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood; D002648:Child; D005260:Female; D006801:Humans; D006993:Hypnotics and Sedatives / Q000009:adverse effects* / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009290:Narcolepsy / Q000188:drug therapy / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D007319:Sleep Initiation and Maintenance Disorders / Q000188:drug therapy; D012978:Sodium Oxybate / Q000009:adverse effects* / Q000627:therapeutic use
chemical_list: D006993:Hypnotics and Sedatives; C116917:acylcarnitine; D012978:Sodium Oxybate; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine