KEGG   DISEASE: Neonatal severe encephalopathy with lactic acidosis and brain abnormalities
Entry
H02518                      Disease                                
Name
Neonatal severe encephalopathy with lactic acidosis and brain abnormalities
Description
Neonatal severe encephalopathy with lactic acidosis and brain abnormalities (NELABA) is characterized by neonatal-onset encephalopathy, metabolic features including lactic acidosis, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities. Mutations in the lipoyl transferase 2 gene (LIPT2) have been identified in patients with NELABA. LIPT2 is essential in the maturation of lipoic acid which acts as a cofactor for mitochondrial enzymes.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H02518  Neonatal severe encephalopathy with lactic acidosis and brain abnormalities
Pathway-based classification of diseases [BR:br08402]
 Cofactor/vitamin metabolism
  nt06032  Lipoic acid metabolism
   H02518  Neonatal severe encephalopathy with lactic acidosis and brain abnormalities
Pathway
hsa00785  Lipoic acid metabolism
hsa01240  Biosynthesis of cofactors
Network
nt06032 Lipoic acid metabolism
Gene
LIPT2 [HSA:387787] [KO:K23735]
Other DBs
ICD-11: 5C53.Y
OMIM: 617668
Reference
PMID:28757203
  Authors
Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chretien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kolker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P
  Title
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
  Journal
Am J Hum Genet 101:283-290 (2017)
DOI:10.1016/j.ajhg.2017.07.001
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