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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-12-2016
Symbol GCE1
Location 16q23.2
Name glycine encephalopathy 1
Other name(s) hyperglycinemia, non ketotic
Corresponding gene GCSH
Other symbol(s) NKH
Main clinical features
  • in the first few days of life lethargy, hypotonia, and myoclonic jerks, and progressing to apnea, and often to death
  • 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
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name glycine cleavage protein H