Term Name:	neonatal severe encephalopathy with lactic acidosis and brain abnormalities
Synonyms:	lipoyl transferase 2 deficiency, lipoyltransferase 2 deficiency, NELABA
Definition:	A mitochondrial metabolism disease characterized by onset at birth of progressive encephalopathy with little or no psychomotor development and brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities, associated with increased serum lactate that has_material_basis_in compound heterozygous mutation in the LIPT2 gene on chromosome 11q13.
Ontology:	Human Disease [DOID:0070752]   ( DOID:0070752 )