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neonatal severe encephalopathy with lactic acidosis and brain abnormalities (DOID:0070752)
Alliance: disease page
Synonyms: lipoyl transferase 2 deficiency; lipoyltransferase 2 deficiency; NELABA
Alt IDs: OMIM:617668, ICD10CM:E88.8, ORDO:447795, UMLS_CUI:C5681203
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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05/26/2026
MGI 6.24 		The Jackson Laboratory