Back متلازمة لي Arabic Síndrome de Leigh Catalan Leigh-Syndrom German Síndrome de Leigh Spanish بیماری لی Persian Leighin oireyhtymä Finnish Sindrom Leigh ID Sindrome di Leigh Italian Syndroom van Leigh Dutch Zespół Leigha Polish
| Leigh syndrome | |
|---|---|
| Other names | Juvenile subacute necrotizing encephalomyelopathy, Leigh disease, infantile subacute necrotizing encephalomyelopathy, subacute necrotizing encephalomyelopathy (SNEM)[1] |
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| Detection of numerous ragged red fibers in a muscle biopsy | |
| Specialty | Neurology  |
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]
- ^ Cite error: The named reference
GHRwas invoked but never defined (see the help page). - ^ Noble, Peter (2018). "Denis Archibald Leigh". Psychiatric Bulletin. 22 (10): 648–9. doi:10.1192/pb.22.10.648.
- ^ Murphy, Jerome V (1974). "Leigh Disease: Biochemical Characteristics of the Inhibitor". Archives of Neurology. 31 (4): 220–7. doi:10.1001/archneur.1974.00490400034002.
- ^ 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.
- ^ 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.