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GENATLAS PHENOTYPE

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

Remark(s)