neonatal severe encephalopathy with lactic acidosis and brain abnormalities

Term ID

DOID:0070752

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. https://pubmed.ncbi.nlm.nih.gov/28757203/

References

• ICD10CM:E88.8
• MIM:617668
• ORDO:447795
• SNOMEDCT_US_2026_03_01:1269231008
• UMLS_CUI:C5681203

Ontology

Human Disease   ( DOID:0070752 )