A 2-month-old male infant presents with hypotonia, poor feeding, and seizures. Vital signs show HR 145 bpm, RR 38, BP 72/48, temperature 37.2°C, and SpO2 98% on room air. Physical examination reveals high forehead, flattened facies, and hepatomegaly. Laboratory studies demonstrate elevated transaminases (AST 156 U/L) and conjugated hyperbilirubinemia. Serum very-long-chain fatty acids are markedly elevated. The infant has no cardiac murmurs. This peroxisomal biogenesis disorder is most likely associated with which additional abnormality?
- A)Deficient LDL receptor endocytosis
- B)Accumulation of glycogen in lysosomes
- C)Defective urea cycle function only
- D)Elevated very long chain fatty acidsGABARITO
- E)Inability to metabolize galactose
Explicação
Zellweger syndrome is a peroxisome biogenesis disorder. Peroxisomes are needed for beta oxidation of very long chain fatty acids, so these accumulate and contribute to severe neurologic and hepatic dysfunction in infancy. The dysmorphic features and neonatal h... Ver explicação completa e trilha adaptativa →