SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY (LEIGH'S DISEASE): DETECTION OF THE HETEROZYGOUS CARRIER STATE

Abstract

Urines from the seven parents of patients with subacute necrotizing encephalomyelopathy (Leigh's disease) clearly inhibit the synthesis of thiamine triphosphate. The incidence of this urinary inhibitor in other relatives indicates that the heterozygous carrier state of Leigh's disease can be detected by utilizing this assay. Analysis of urine for this inhibitor should be valuable in the accurate genetic counseling of relatives of patients with this disease.