Glutaminase deficiency
# Glutaminase deficiency

Glutaminase deficiency is a rare genetic disorder that presents in childhood. It is associated with epilepsy and usually results in an early demise.

## Presentation

This condition is characterised by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period.

## Genetics

This condition is caused by mutations in the glutaminase (GLS) gene. The inheritance of this condition is autosomal recessive. Milder cases have been reported due a mutation in the 5' region of the gene.

## Diagnosis

This diagnosis is made by sequencing the GLS gene. There is presently no curative treatment. Management is supportive.

## Epidemiology

The prevalence is not known but this is considered to be a rare disease. As of 2019 only seven cases have been reported.

This condition was first described in 2018.

