Glycine Encephalopathy (Nonketotic hyperglycinemia)

This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.

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This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.

Disease Name 
Glycine Encephalopathy
Disease Information 

Glycine Encephalopathy appears shortly after birth and results in a progressive lack of energy, feeding difficulties, hypotonia, abnormal jerking movements, and life-threatening problems with breathing. Most children who survive these early signs and symptoms develop profound intellectual disability and seizures that are difficult to treat. For unknown reasons, affected males are more likely to survive and have less severe developmental problems than affected females.

Test Description 

Specific mutation analysis for GLDC mutations p.G761R, p.M1T, p.R515S, p.S564I. This test is performed as part of AmbrySCREEN and cannot be ordered separately.

Genes