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?

  1. A)Cystathionine beta synthase deficiency
  2. B)Dihydrofolate reductase deficiency
  3. C)Tetrahydrobiopterin deficiencyGABARITO
  4. D)Phenylalanine hydroxylase deficiency only
  5. 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 →

Fazer o diagnóstico grátis de USMLE