Neonatal severe encephalopathy with lactic acidosis and brain abnormalities

Definition:

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.

References:

[1]. Florence Habarou, et al. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. Am J Hum Genet. 2017 Aug 3;101(2):283-290. [Content Brief]

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