A 24-year-old man presents with progressive burning pain in his hands and feet worsening with exercise. Vital signs show BP 138/88, HR 98, RR 16, temp 37°C, SpO2 98%. He has clusters of dark red papules over the lower trunk and markedly decreased sweating. Urinalysis reveals proteinuria; serum creatinine is normal. He denies fever or recent infections. Which enzyme deficiency most likely explains these findings?
- A)Alpha galactosidase AGABARITO
- B)Hexosaminidase A
- C)Beta glucocerebrosidase
- D)Iduronidase
- E)Sphingomyelinase
Explicação
This patient has Fabry disease due to alpha galactosidase A deficiency, an X linked sphingolipidosis. Ceramide trihexoside accumulation causes acroparesthesias, angiokeratomas, hypohidrosis, and progressive renal and cardiovascular disease. Neuropathic pain in... Ver explicação completa e trilha adaptativa →