A 10-month-old boy presents with progressive developmental regression and an exaggerated startle response over the past 2 months. Vital signs: HR 118/min, RR 28/min, Temp 37.2°C. Funduscopic examination reveals a cherry red macula. Serum acid phosphatase is elevated at 18 U/L (normal: 2-10). Hepatosplenomegaly is absent. The child takes no medications. Which enzyme deficiency most likely explains these findings?
- A)Alpha galactosidase A
- B)Sphingomyelinase
- C)Arylsulfatase A
- D)Beta glucocerebrosidase
- E)Hexosaminidase AGABARITO
Explicação
This infant has Tay Sachs disease caused by hexosaminidase A deficiency with accumulation of GM2 ganglioside. Progressive neurodegeneration, hyperacusis, and a cherry red macula in the absence of hepatosplenomegaly are classic features. The lack of organomegal... Ver explicação completa e trilha adaptativa →