A 3-month-old male infant presents with poor feeding and generalized hypotonia for 2 weeks. Vital signs show HR 145/min, RR 32/min, BP 78/52 mmHg, and normal temperature. Physical examination reveals macroglossia, cardiomegaly on chest X-ray, and hepatomegaly. Serum creatine kinase is elevated at 850 U/L. The infant has no respiratory distress or seizure activity. Which enzyme deficiency most likely explains these findings?
- A)Branching enzyme
- B)Myophosphorylase kinase
- C)Lysosomal acid alpha glucosidaseGABARITO
- D)Muscle glycogen phosphorylase
- E)Debranching enzyme
Explicação
Pompe disease is a glycogen storage disease due to lysosomal acid alpha glucosidase deficiency. Infants can present with cardiomegaly, macroglossia, hypotonia, and death from cardiorespiratory failure. Ver explicação completa e trilha adaptativa →