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Summary
HYPERGLYCINEMIA, NON-KETOTIC
NKH GLYCINE ENCEPHALOPATHY GLYCINE CLEAVAGE SYSTEM DEFICIENCY
605899
OMIM = Online Medalian Inheritance of Men
407
16q23.2, 9p24.1, 3p21.31
  • dextromethorphane
  • diazepam
  • ketamine
  • N-methyl-D-aspartate modulators
  • sodium benzoate
  • strychnine
rare (1:76.000, 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
symptoms
Amino acid, spinal fluid
Amino acids, plasma
ataxia
behavior, autism or autistic-like
blindness, visual loss, visual impairment
chorea or athetosis
early death
feeding difficulties, poor feeding
hydrocephalus
hypotonia
mental retardation
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
pulmonary hypertension
seizures
spastic diplegia/quadriplegia
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Glycine40.00280.001.9010.00-Ámol/lcerebrospinal fluid
Glycine500.001500.00230.00450.00-Ámol/lplasma
Glycine 210.00743.00increasedurine
Glycine cleavage enzyme 2.104.60not detectableliver
Glycine cleavage enzyme 4.4029.00not detectablelymphoblasts
EEG abnormalities -
MRI, brain, white matter abnormalities -
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