Lipoyl transferase 2 deficiency
ORPHA:447795· ICD-10 E88.8
Definition
A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others.
- Prevalence
- Not yet documented
- Inheritance
- No data available
- Age of onset
- No data available