KEGG   VARIANT: 51601v1
Entry
51601v1                      Variant                               
Name
LIPT1 deficiency
Type
Loss of function
Gene
LIPT1  lipoyltransferase 1 [KO:K10105]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610284
Network
nt06032  Lipoic acid metabolism
Disease
H02643  Lipoyltransferase 1 deficiency
Reference
  Authors
Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chretien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P
  Title
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
  Journal
Orphanet J Rare Dis 8:192 (2013)
DOI:10.1186/1750-1172-8-192
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