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J Inherit Metab Dis. 2012 Mar;35(2):253-61. doi: 10.1007/s10545-011-9398-1. Epub 2011 Oct 15.

Prediction of long-term outcome in glycine encephalopathy: a clinical survey.

Author information

1
Department of Pediatrics, Charité Universitätsmedizin, Augustenburger Platz 1, 13353, Berlin, Germany. julia.hennermann@charite.de

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.

CONCLUSION:

Prediction of the outcome of GE may be facilitated by recognizing selected clinical parameters and early neuroimaging findings.

PMID:
22002442
DOI:
10.1007/s10545-011-9398-1
[Indexed for MEDLINE]

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