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Review Question - QID 210388

Glycogen Storage Disorders Introduction Glycogen Storage Diseases GSD Defective Enzyme Characteristics Von Gierke disease (type 1) Hepatic glucose-6-phosphatase Autosomal recessive Usually presenting at 3-6 months of age Hepatomegaly Signs of hypoglycemia seizure "Do QID: 210388 (M2.OMB.18.1)
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QID 210388 (Type "210388" in App Search)
A newborn infant presents with weakness. He was born to a G1P1 mother at 40 weeks gestation with the pregnancy attended by a midwife. The mother's medical history is unremarkable. She took prenatal vitamins and folic acid throughout the pregnancy. Since birth, the child has had trouble breastfeeding despite proper counseling. He also has had poor muscle tone and a weak cry. His temperature is 99.5°F (37.5°C), blood pressure is 57/38 mmHg, pulse is 150/min, respirations are 37/min, and oxygen saturation is 96% on room air. Physical exam reveals poor muscle tone. The patient's sucking reflex is weak, and an enlarged tongue is noted. An ultrasound is performed and is notable for hypertrophy of the myocardium. Which of the following is the most likely diagnosis?
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