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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-12-2016
Symbol GCE3
Location 3p21.31
Name glycine encephalopathy 3
Corresponding gene AMT
Main clinical features
  • in neonatal phenotype, presenting in the first few days of life with lethargy, hypotonia, and myoclonic jerks, and progressing to apnea, and often to death; patients who regain spontaneous respiration develop intractable seizures and profound mental retardation
  • in the infantile form, patients present with seizures and have various degrees of mental retardation after a symptom-free interval and seemingly normal development for up to 6 months
  • in the mild-episodic form, patients present in childhood with mild mental retardation and episodes of delirium, chorea, and vertical gaze palsy during febrile illness
  • in the late-onset form, patients present in childhood with progressive spastic diplegia and optic atrophy, but intellectual function is preserved and no seizures
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    mental retardation
    Type disease