Leigh syndrome

Leigh syndrome, also called Leigh disease or subacute necrotizing encephalomyelopathy, is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951. Most patients first show symptoms between the ages of 3 and 12 months, although adult onset has also been documented. Patients commonly have normal levels of thiamine, thiamine monophosphate and thiamine diphosphate but a reduced or absent level of thiamine triphosphate, which is thought to follow from a blockage in the enzyme thiamine-diphosphate kinase; on that basis daily thiamine triphosphate has been proposed as treatment for some patients.