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. CONCLUSION: Prediction of the outcome of GE may be facilitated by recognizing selected clinical parameters and early neuroimaging findings.
OBJECTIVE:Glycineencephalopathy (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. CONCLUSION: Prediction of the outcome of GE may be facilitated by recognizing selected clinical parameters and early neuroimaging findings.
Authors: L Nguyen; J M Rigo; V Rocher; S Belachew; B Malgrange; B Rogister; P Leprince; G Moonen Journal: Cell Tissue Res Date: 2001-08 Impact factor: 5.249
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Authors: J L Van Hove; P Kishnani; J Muenzer; R J Wenstrup; M L Summar; M R Brummond; A M Lachiewicz; D S Millington; S G Kahler Journal: Am J Med Genet Date: 1995-12-04
Authors: Peter R Baker; Marisa W Friederich; Michael A Swanson; Tamim Shaikh; Kaustuv Bhattacharya; Gunter H Scharer; Joseph Aicher; Geralyn Creadon-Swindell; Elizabeth Geiger; Kenneth N MacLean; Wang-Tso Lee; Charu Deshpande; Mary-Louise Freckmann; Ling-Yu Shih; Melissa Wasserstein; Malene B Rasmussen; Allan M Lund; Peter Procopis; Jessie M Cameron; Brian H Robinson; Garry K Brown; Ruth M Brown; Alison G Compton; Carol L Dieckmann; Renata Collard; Curtis R Coughlin; Elaine Spector; Michael F Wempe; Johan L K Van Hove Journal: Brain Date: 2013-12-11 Impact factor: 13.501
Authors: Sarah L Nickerson; Shanti Balasubramaniam; Philippa A Dryland; Jennifer M Love; Maina P Kava; Donald R Love; Debra O Prosser Journal: J Pediatr Genet Date: 2016-06-15