<unk>  (also called<unk>  disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis<unk> , a British neuropsychiatrist who first described the condition in 1951. Normal levels of thiamine, thiamine monophosphate, and thiamine diphosphate are commonly found but there is a reduced or absent level of thiamine triphosphate. This is thought to be caused by a blockage in the enzyme thiamine-diphosphate kinase, and therefore treatment in some patients would be to take thiamine triphosphate daily.
Leigh syndrome
Tay–Sachs disease
Maroteaux–Lamy syndrome
Coffin–Siris syndrome
Ohtahara syndrome
Nathalie syndrome
Laurence–Moon syndrome
Kosaki overgrowth syndrome