Glycogen storage disease (type I) presenting in the neonatal period.
Four Asian babies presenting with type I glycogen storage disease during the early weeks of life are described. In one child the symptoms, metabolic acidosis, and hypoglycaemia were so easily controlled that the diagnosis was not entertained, leading to a late diagnosis. In another child the diagnosis was reached only by investigation of a fortuitously detected hyperlipidaemia. The 3 babies in whom early treatment was started are thriving, and in one, the liver histology was so normal that doubt was cast on the diagnosis initially.
D005260:Female; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis* / Q000178:diet therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male