A 7-month-old girl with fair skin and microcephaly presents with developmental delay and recurrent vomiting. Parents report a distinctive musty odor to her diapers and note she has not achieved normal developmental milestones. Vital signs: HR 118, RR 28, Temp 37.2°C. Examination reveals eczema and hepatomegaly. Plasma phenylalanine is markedly elevated at 18 mg/dL (normal <2). She has not received newborn screening. Which of the following is the most likely diagnosis?
- A)PhenylketonuriaGABARITO
- B)Tyrosinemia type I
- C)Homocystinuria
- D)Maple syrup urine disease
- E)Alkaptonuria
Explicação
This infant has classic phenylketonuria due to phenylalanine hydroxylase deficiency. Accumulation of phenylalanine and phenylketones causes intellectual disability, seizures, musty body odor, eczema, and hypopigmentation from reduced tyrosine production. Newbo... Ver explicação completa e trilha adaptativa →