A 14 year old boy is evaluated after a deep venous thrombosis. He is tall and thin with long extremities. Slit lamp examination shows downward and inward displacement of the lens. He has mild intellectual disability. Which of the following enzyme deficiencies is the most likely cause of this patient's disorder?
- A)Cystine transporter
- B)Phenylalanine hydroxylase
- C)Fibrillin 1
- D)Cystathionine beta synthaseGABARITO
- E)Tyrosinase
Explicação
This adolescent has homocystinuria due to cystathionine beta synthase deficiency, a vitamin B6 dependent enzyme defect. Elevated homocysteine causes endothelial injury and thrombosis, while connective tissue abnormalities produce marfanoid habitus and downward... Ver explicação completa e trilha adaptativa →