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GTR Home > Conditions/Phenotypes > Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

Synonyms
LIPOYLTRANSFERASE 2 DEFICIENCY

Summary

NELABA is a severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. Some patients die in infancy (summary by Habarou et al., 2017). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , LIPT2
    Summary: lipoyl(octanoyl) transferase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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