Hepatic Glycogen-Storage Disease with Acidosis in the Neonate

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HEPATIC glycogen-storage disease, or Von Gierke’s disease, is characterized by a deficiency of the specific enzyme, glucose-6-phosphatase,1–4 which catalyzes the production of glucose from glucose-6-phosphate in the liver. The disease is manifested by hypoglycemia, acidosis, ketonuria, abnormal deposition of subcutaneous fat, lipemia, retardation of growth, and heaptomegaly without an enlarged spleen.

Case Report

A five-day-old boy was admitted to the Cleveland Clinic Hospital in May, I960, because of difficulty in breathing during feeding. The pregnancy and the labor had been normal. Although the mother’s blood group was Rh negative, no antibodies had been detected in her serum. On the third day of life, grunting and gasping occurred in the infant during feeding. The difficulty in breathing persisted until his admission to the hospital.

Examination revealed a moderately dehydrated male infant who weighed 3 kg. The pulse rate was 132 with a regular sinus rhythm, and the respirations were grunting and rapid. The lungs were clear to auscultation and the heart was normal in size. The abdomen was distended and the liver was soft. The lower edge of the liver was at the level of the right iliac crest. There was some pitting edema of the legs. The heart sounds were weak but there was no venous distention. The clinical impression was that the infant’s condition resulted from a primary metabolic problem, and electrolyte studies revealed a profound metabolic acidosis. The serum determinations were: carbon dioxide, 5 mEq. per 100 ml.; sodium, 143 mEq.; potassium, 6.3 mEq.; chloride, 109 mEq.. . .



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