SYMPTOMATIC HYPOGLYCEMIA, VISCERAL FATTY METAMORPHOSIS, AND AGLYCOGENOSIS IN AN INFANT LACKING GLYCOGEN SYNTHETASE AND PHOSPHORYLASE

Abstract

An infant 4 months of age had severe hypoglycemia, acidosis, and hepatomegaly. She died with what was thought to be a glycogen storage disease. Glycogen was absent from liver, skeletal muscle, kidneys, and adrenal glands. Enzymatic assays of liver and muscle revealed a marked deficiency of glycogen synthetase and phosphorylase. Marked fatty metamorphosis was present in liver and kidneys. The clinical, pathological, and biochemical findings are correlated. Three siblings died in early infancy. All presented with apnea, coma, and central nervous system signs. Two were examined postmortem, and fatty metamorphosis of liver was a common finding. Correlations between the three siblings and the infant 4 months of age are suggested.