Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1 (PEBEL1)

Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1, also known as encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, is related to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 and 2-hydroxyglutaric aciduria. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1 is NAXE (NAD(P)HX Epimerase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Nicotinate metabolism. Affiliated tissues include brain and spinal cord, and related phenotypes are increased serum lactate and respiratory failure