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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
hydrocephalus
hypotonia
mental retardation
onset, child
onset, infant
onset, newborn
optic atrophy
pulmonary hypertension
seizures
spastic diplegia/quadriplegia
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Glycine40.00280.001.9010.00-Ámol/lspinal fluid
Glycine500.001500.00232.00740.00-Ámol/lplasma
Glycine 0.00950.00increasedurine
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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