Autoszomális recesszív
Glutaminase deficiency is caused by changes in both copies of GLS, which makes the enzyme that converts glutamine to glutamate.
Tünetek és jelek
The most severe form starts soon after birth with seizures, breathing failure and brain abnormalities, and is often fatal in early infancy; blood glutamine levels are raised. Milder forms cause early-onset developmental delay.
Mit változtat a diagnózis
There is no specific treatment; care is supportive, with seizure treatment, breathing and feeding support and developmental care. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier testing can be offered to relatives.
Vizsgált gének
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- developmental and epileptic encephalopathy, 71
- spastic ataxia-dysarthria due to glutaminase deficiency
MONDO:0600001Források: [4][1]
