Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities (NELABA)

Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities, is also known as lipoyltransferase 2 deficiency. An important gene associated with Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities is LIPT2 (Lipoyl(Octanoyl) Transferase 2). Affiliated tissues include brain, and related phenotypes are increased serum lactate and profound global developmental delay