A 2-month-old male is evaluated for failure to thrive. As the pediatrician is examining the patient, she witnesses a seizure. Physical examination is remarkable for hepatomegaly, a finding later confirmed by CT scan, which also reveals kidney enlargement. Serum chemistries demonstrate severe hypoglycemia, hyperlipidemia, and lactic acidosis. Which of the following enzyme deficiencies best accounts for this clinical presentation?
- A)Glucocerebrosidase
- B)Glycogen phosphorylase
- C)Glucose-6-phosphataseGABARITO
- D)Sphingomyelinase
- E)α-1,4-Glucosidase (acid maltase)
Explicação
The correct answer is E. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 2. Ver explicação completa e trilha adaptativa →