OMIM = Online Medalian Inheritance of Men
16q23.2, 9p24.1, 3p21.31
  • dextromethorphane
  • diazepam
  • ketamine
  • N-methyl-D-aspartate modulators
  • sodium benzoate
  • strychnine
rare (1:76000, 1:12000 northern Finland)
autosomal recessive
atypical patients with low glycine levels in CSF and plasma, transient form has been described in 5 patients, few patients never developed seizures
Amino acid, spinal fluid
Amino acids, plasma
behavior, hyperactive, restless
blindness, visual loss, visual impairment
chorea or athetosis
early death
feeding difficulties, poor feeding
mental retardation
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
pulmonary hypertension
spastic diplegia/quadriplegia/tetraplegia
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Glycine40.00280.001.9010.00-Ámol/lcerebrospinal fluid
Glycine1000.005000.00210.00743.00mmol/mol creatinineurine
Glycine cleavage enzyme 2.104.60not detectableliver
Glycine cleavage enzyme 4.4029.00not detectablelymphoblasts
EEG abnormalities -
MRI, brain, white matter abnormalities -
MRI, brain, abnormalities -
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