GSD type IV (Andersen disease)Downloads

An otherwise healthy, exclusively breastfed 4-day-old neonate is brought to the physician because of yellowing of his skin and eyes. His urine has been clear and stools have been normal. He was born at term by vacuum-assisted delivery and weighed 4000 g (8 lb 8 oz). Pregnancy was complicated by gestational diabetes mellitus. His older sibling had jaundice in the neonatal period. Vital signs are within normal limits. He appears alert and comfortable. Physical examination shows jaundice of the skin and sclerae. The liver is palpated 1 cm below the right costal margin. Laboratory studies show: Hemoglobin 17 g/dl Reticulocyte count 0.5 % Total bilirubin 21.2 mg/dl Direct bilirubin 2 mg/dl Indirect bilirubin 19.1 mg/dl Coombs test Negative Which of the following is the most appropriate next step in management?

A 12-year-old girl comes to the clinic with a grossly enlarged abdomen. She has a history of frequent episodes of weakness, sweating, and pallor that are eliminated by eating. Her development has been slow. She started to walk unassisted at 2 years and was not performing well at school. Physical examination reveals a blood pressure of 100/60 mm Hg, heart rate of 80/min, and temperature of 36.9°C (98.4℉). On physical examination, the liver is enlarged, firm, and palpable up to the pelvis. The spleen and kidney are not palpable. Laboratory investigation reveals low blood glucose and pH with high lactate, triglycerides, ketones, and free fatty acids. The liver biopsy revealed high glycogen content. Hepatic glycogen structure was normal. The enzyme assay performed on the biopsy tissue revealed very low glucose-6-phosphatase levels. What is the most likely diagnosis?