A 7-month-old infant presents with lethargy, seizures, and rapid breathing following an overnight fast during a viral illness. Vital signs show HR 128/min, RR 32/min, BP 90/58 mmHg, temperature 38.2°C. Laboratory studies reveal blood glucose 35 mg/dL, venous pH 7.22 with lactate 8.2 mmol/L, and elevated ketones. Serum ammonia and liver transaminases are normal. Physical examination reveals no hepatomegaly. Deficiency of which enzyme most likely explains these findings?
- A)Glucose 6 phosphatase
- B)Galactokinase
- C)Fructose 1,6 bisphosphataseGABARITO
- D)Pyruvate kinase
- E)Branching enzyme
Explicação
Fructose 1,6 bisphosphatase deficiency impairs gluconeogenesis and causes fasting hypoglycemia with lactic acidosis and ketosis, especially during illness or prolonged fasting. Unlike von Gierke disease, hepatomegaly may be absent or mild because glycogenolysi... Ver explicação completa e trilha adaptativa →