title: Glutaminase deficiency
text: # 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.
  
  