neonatal severe encephalopathy with lactic acidosis and brain abnormalities

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 ser

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.

Signs and symptoms

• Encephalopathy
• Elevated brain lactate level by MRS
• Ventriculomegaly
• Hyperalaninemia
• Axial hypotonia
• Absent speech
• Feeding difficulties
• Global developmental delay
• Increased circulating lactate concentration
• Delayed gross motor development

Also known as: NELABA; lipoyl transferase 2 deficiency; lipoyltransferase 2 deficiency