A 3 year old girl is brought in for sensitivity to sunlight and poor visual acuity. Examination shows very light skin and hair compared with her parents, nystagmus, and decreased retinal pigment. Hearing is normal and she has no bleeding diathesis or recurrent infections. Which of the following enzyme deficiencies is the most likely cause?
- A)Galactokinase
- B)TyrosinaseGABARITO
- C)Phenylalanine hydroxylase
- D)Hexosaminidase A
- E)Cystathionine beta synthase
Explicação
This child has oculocutaneous albinism due to tyrosinase deficiency, which impairs conversion of tyrosine to DOPA and therefore melanin synthesis. Reduced melanin explains the hypopigmentation, nystagmus, and visual problems. The absence of immune or platelet ... Ver explicação completa e trilha adaptativa →