Glutaminase deficiency

MONDO:0600001

Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.

Also known as: glutaminase deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Glutaminase deficiency itself.

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↑ Disorder of glutamine metabolism (0)

Sub-types of Glutaminase deficiency

Developmental and epileptic encephalopathy, 71 0 trials
Spastic ataxia-dysarthria due to glutaminase deficiency 0 trials

Including sub-types (0) Tagged with Glutaminase deficiency (0)

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