Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Definition

An autosomal recessive disorder characterized by severe encephalopathy with neonatal onset, metabolic features including lactic acidosis, little or no psychomotor development, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities.

Acronym

NELABA

Synonyms

Lipoyltransferase 2 deficiency
LIPT2D