Leigh syndrome

Leigh syndrome
Other namesJuvenile subacute necrotizing encephalomyelopathy, Leigh disease, infantile subacute necrotizing encephalomyelopathy, subacute necrotizing encephalomyelopathy (SNEM)[1]
Detection of numerous ragged red fibers in a muscle biopsy
SpecialtyNeurology Edit this on Wikidata

Leigh syndrome (also called Leigh disease and 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.[2] 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.[3][4] While the majority of patients typically exhibit symptoms between the ages of 3 and 12 months, instances of adult onset have also been documented.[5]

  1. ^ Cite error: The named reference GHR was invoked but never defined (see the help page).
  2. ^ Noble, Peter (2018). "Denis Archibald Leigh". Psychiatric Bulletin. 22 (10): 648–9. doi:10.1192/pb.22.10.648.
  3. ^ Murphy, Jerome V (1974). "Leigh Disease: Biochemical Characteristics of the Inhibitor". Archives of Neurology. 31 (4): 220–7. doi:10.1001/archneur.1974.00490400034002.
  4. ^ Murphy, J. V; Craig, L (1975). "Leigh's disease: Significance of the biochemical changes in brain". Journal of Neurology, Neurosurgery, and Psychiatry. 38 (11): 1100–3. doi:10.1136/jnnp.38.11.1100. PMC 492163. PMID 1206418.
  5. ^ Gerards, Mike; Sallevelt, Suzanne C.E.H.; Smeets, Hubert J.M. (March 2016). "Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options". Molecular Genetics and Metabolism. 117 (3): 300–312. doi:10.1016/j.ymgme.2015.12.004. ISSN 1096-7192. PMID 26725255.