Non‐ketotic hyperglycinaemia presenting as pachygyria

Summary A 2‐day‐old infant with lethargy and hypoventilation had pachygyria and agenesis of the corpus callosum on CT scand. 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...

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Veröffentlicht in:	Journal of inherited metabolic disease 1995-11, Vol.18 (6), p.665-668
Hauptverfasser:	Fletcher, J. M., Bye, A. M. E., Nayanar, V., Wilcken, B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - blood Amino Acid Metabolism, Inborn Errors - complications Aminoacid disorders Biological and medical sciences Brain - abnormalities Errors of metabolism Female Glycine - blood Humans Infant, Newborn Medical sciences Metabolic diseases
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