A 2-year-old boy presents with growth delay and progressive abdominal fullness. Vital signs show HR 102/min, BP 95/62 mmHg, RR 20/min, temperature 37.2°C. Physical examination reveals marked hepatomegaly without splenomegaly. Laboratory studies demonstrate fasting hypoglycemia (55 mg/dL), elevated AST/ALT (3× normal), normal serum lactate, and hyperuricemia. Abdominal ultrasound confirms hepatic steatosis. He denies recent infections. Which enzyme deficiency most likely explains this presentation?
- A)Branching enzyme
- B)Debranching enzymeGABARITO
- C)Acid alpha glucosidase
- D)Fructose 1,6 bisphosphatase
- E)Glucose 6 phosphatase
Explicação
This child most likely has Cori disease due to debranching enzyme deficiency. Patients have accumulation of abnormal glycogen with short outer branches, causing hepatomegaly and milder hypoglycemia than Von Gierke disease. The normal lactate level helps distin... Ver explicação completa e trilha adaptativa →