GOT2 gene

Also known as: Developmental and epileptic encephalopathy 82; DEE82; Epileptic encephalopathy, early infantile, 82; EIEE82; Mitochondrial deficiency of glutamate oxaloacetate transaminase

1. The Disease:

Developmental and epileptic encephalopathy-82 (DEE82) is an autosomal recessive mitochondriopathy manifest as early-onset metabolic epileptic encephalopathy. Importantly, treatment with combined pyridoxine and serine can result in significant improvement in seizures as well as some mild developmental progress

2. The symptoms:

Soon after birth, affected individuals exhibit hypotonia, feeding difficulties, and global developmental delay even before the onset of seizures in the first year of life. The severity is variable, but all patients have severely impaired intellectual development with absent speech and spastic tetraplegia. Other features include poor overall growth with microcephaly and recurrent infections. Lack of early signs or symptoms does not exclude the diagnosis.

3. Actions to take in case of early diagnosis:

Brain imaging shows cerebral atrophy, thin corpus callosum, cerebellar hypoplasia, and white matter abnormalities. Laboratory studies show low plasma serine, increased serum citrulline, lactate and ammonia.

GOT2 def is a lifelong disease requiring lifetime management and regular follow-up with a Paediatric Neurology Center Management is provided by multidisciplinary team.

Therapy with oral pyridoxine and serine showed good results stopping the seizures.

Genetic counselling is highly recommended for family planning and evaluation of at-risk family members such as siblings.

4. For more information:

Biblio: 1. van Karnebeek CDM, Ramos RJ, Wen XY, et al. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. Am J Hum Genet. 2019;105(3):534-548. doi:10.1016/j.ajhg.2019.07.015