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  • Title: Non-ketotic hyperglycinaemia presenting as pachygyria.
    Author: Fletcher JM, Bye AM, Nayanar V, Wilcken B.
    Journal: J Inherit Metab Dis; 1995; 18(6):665-8. PubMed ID: 8750602.
    Abstract:
    A 2-day-old infant with lethargy and hypoventilation had pachygyria and agenesis of the corpus callosum on CT scan. Increased concentrations of glycine in plasma and CSF, together with an increased CSF/plasma ratio, confirmed a clinical diagnosis of non-ketotic hyperglycinaemia. This is the first report of pachygyria in this disorder, although agenesis of the corpus callosum is well recognized, and non-specific gyral malformations have been described previously. The specific diagnosis of an inborn error of metabolism in infants with structural brain malformations is of critical importance for accurate genetic counseling.
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