A 1-month-old girl is brought into the emergency room in the middle of the night after having a seizure.
The mother states that the patient had one previous seizure episode that occurred soon after birth. The baby also has a history of tremors, irritability, and three short spells of apnea. Review of the patient's medical record shows that there were no prenatal complications and that the baby was delivered at term by cesarean section. The child is administered dextrose injection immediately. As the mother offers additional history, the patient's seizure stops. The patient has a 4-year-old brother who is in good health, and there is no family history of seizures. On exam, vitals are: temperature 36.6 C, heart rate 180/min, and respirations 62/min, and blood pressure 130/77 mmHg. Besides the presence of tachycardia and tachypnea, heart and lung exams are normal. Abdominal exam demonstrates a palpable liver edge located 8 cm below the costal margin. The spleen is not palpable. The remainder of her physical exam is normal. Fingerstick glucose is 52 mg/dL. Other laboratory studies show: sodium 144 mEq/L, potassium 4.1 mEq/L, chloride 101 mEq/L, bicarbonate 14 mEq/L, BUN 8mg/dL, and creatinine 0.5 mg/dL. Lactate is significantly elevated, as are liver function tests. PaCO2 is 31 mmHg. A subsequent assay shows deficient glucose-6 phosphatase activity.
1.Which of the following glucose storage diseases (GSDs) represents the most likely diagnosis?
A) von Gierke disease (GSD type I)
B) Pompe disease (GSD type II)
C) Cori disease (GSD type III)
D) Anderson disease (GSD type IV)
E) McArdle disease (GSD type V)
2.Which of the following enzyme defects is associated with this disease?
A) Transglucosidase
B) Acid alpha-glucosidase
C) Myophosphorylase
D) Glucose-6-phosphatase
E) Amylo-1,6 glucosidase
3.Arterial blood gas measurements are most likely to reveal which of the following with regards to acid-base status?
A)Respiratory alkalosis
B)Respiratory acidosis
C)Metabolic alkalosis with respiratory compensation
D)Metabolic alkalosis without compensation
E)Metabolic acidosis with respiratory compensation
The mother states that the patient had one previous seizure episode that occurred soon after birth. The baby also has a history of tremors, irritability, and three short spells of apnea. Review of the patient's medical record shows that there were no prenatal complications and that the baby was delivered at term by cesarean section. The child is administered dextrose injection immediately. As the mother offers additional history, the patient's seizure stops. The patient has a 4-year-old brother who is in good health, and there is no family history of seizures. On exam, vitals are: temperature 36.6 C, heart rate 180/min, and respirations 62/min, and blood pressure 130/77 mmHg. Besides the presence of tachycardia and tachypnea, heart and lung exams are normal. Abdominal exam demonstrates a palpable liver edge located 8 cm below the costal margin. The spleen is not palpable. The remainder of her physical exam is normal. Fingerstick glucose is 52 mg/dL. Other laboratory studies show: sodium 144 mEq/L, potassium 4.1 mEq/L, chloride 101 mEq/L, bicarbonate 14 mEq/L, BUN 8mg/dL, and creatinine 0.5 mg/dL. Lactate is significantly elevated, as are liver function tests. PaCO2 is 31 mmHg. A subsequent assay shows deficient glucose-6 phosphatase activity.
1.Which of the following glucose storage diseases (GSDs) represents the most likely diagnosis?
A) von Gierke disease (GSD type I)
B) Pompe disease (GSD type II)
C) Cori disease (GSD type III)
D) Anderson disease (GSD type IV)
E) McArdle disease (GSD type V)
2.Which of the following enzyme defects is associated with this disease?
A) Transglucosidase
B) Acid alpha-glucosidase
C) Myophosphorylase
D) Glucose-6-phosphatase
E) Amylo-1,6 glucosidase
3.Arterial blood gas measurements are most likely to reveal which of the following with regards to acid-base status?
A)Respiratory alkalosis
B)Respiratory acidosis
C)Metabolic alkalosis with respiratory compensation
D)Metabolic alkalosis without compensation
E)Metabolic acidosis with respiratory compensation