A 3-month-old girl presents with poor feeding and weak crying. Vital signs show HR 152, RR 38, BP 78/52, temp 37°C, SpO2 98% on room air. Examination reveals marked hypotonia and hepatomegaly. Chest radiograph demonstrates cardiomegaly with echocardiography confirming hypertrophic cardiomyopathy. Serum creatine kinase is elevated at 285 U/L. Muscle biopsy shows glycogen accumulation within lysosomes. No developmental delay is noted. Which enzyme deficiency is most likely responsible?
- A)Pyruvate carboxylase
- B)Debranching enzyme
- C)Glucose 6 phosphatase
- D)Acid alpha glucosidaseGABARITO
- E)Lysosomal acid lipase
Explicação
This infant has Pompe disease caused by acid alpha glucosidase deficiency. The disease is characterized by lysosomal glycogen accumulation, leading to cardiomegaly, hypertrophic cardiomyopathy, macroglossia, and hypotonia. The lysosomal location distinguishes ... Ver explicação completa e trilha adaptativa →