title: Prediction of long-term outcome in glycine encephalopathy: a clinical survey.
abstract: OBJECTIVE
  Glycine encephalopathy (GE) is a rare autosomal recessive inborn error of glycine degradation resulting in severe encephalopathy with ensuing poor outcome. Attenuated variants with a significantly better outcome have been reported. Early prediction of long-term outcome is not yet possible.
  
  
  METHODS
  We compared the clinical and biochemical features of 45 children, each with a different course of the disease, to help determine predictors of long-term outcome.
  
  
  RESULTS
  The most common presenting symptoms were hypotonia, seizures, and coma. In this study, 85% of the patients presented within the first week of life, and 15% presented after the neonatal period up to the age of 12 months. Developmental progress was made by 19% of those children presenting during the neonatal period and by 50% of those presenting in infancy. Initial CSF and plasma glycine concentrations were not useful in differentiating severe and attenuated outcome. A severe outcome was significantly associated with early onset of spasticity, frequent hiccupping, EEG burst-suppression or hypsarrhythmia patterns, microcephaly, and congenital or cerebral malformations, e.g. corpus callosum hypoplasia. An attenuated outcome was significantly associated with hyperactivity and choreiform movement disorders. We describe a severity score which facilitates the prediction of the outcome in patients with GE.
  
  
  CONCLUSIONS
  Prediction of the outcome of GE may be facilitated by recognizing selected clinical parameters and early neuroimaging findings.
authors: Department of Pediatrics, Charité Universitätsmedizin, Augustenburger Platz 1, 13353, Berlin, Germany. julia.hennermann@charite.de
authors: Julia B
authors: JB
authors: Hennermann
authors: Jeanne-Marie
authors: JM
authors: Berger
authors: Ulrike
authors: U
authors: Grieben
authors: Gunter
authors: G
authors: Scharer
authors: Johan L K
authors: JL
authors: Van Hove
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy*; D007223:Infant; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis; D011296:Prenatal Diagnosis / Q000379:methods; D011379:Prognosis; D013995:Time; D055815:Young Adult