A 2-week-old male presents with poor feeding and hypotonia. Newborn screening revealed markedly elevated serum phenylalanine (28 mg/dL; normal <2). Despite strict low-phenylalanine diet initiated at 5 days of life, he develops progressive developmental delay and seizures at 3 weeks. Vital signs show HR 145, RR 32, temp 37.2°C. CSF analysis demonstrates low dopamine and serotonin metabolites. Serum tyrosine remains low despite adequate protein intake. Which of the following best explains his neurologic deterioration despite dietary phenylalanine restriction?
- A)Cystathionine beta synthase deficiency
- B)Dihydrofolate reductase deficiency
- C)Tetrahydrobiopterin deficiencyGABARITO
- D)Phenylalanine hydroxylase deficiency only
- E)Branched chain alpha ketoacid dehydrogenase deficiency
Explicação
This infant most likely has tetrahydrobiopterin deficiency. BH4 is a required cofactor for phenylalanine hydroxylase as well as tyrosine hydroxylase and tryptophan hydroxylase, so deficiency causes hyperphenylalaninemia plus low catecholamine and serotonin syn... Ver explicação completa e trilha adaptativa →