A 4-day-old female newborn presents with poor feeding, vomiting, hypotonia, and seizures. Vital signs reveal HR 155 bpm, RR 28/min, temp 37.2°C. Laboratory studies demonstrate high anion gap metabolic acidosis (pH 7.18), serum ammonia 185 μmol/L, elevated plasma propionyl-CoA derivatives, and positive urine ketones. Abdominal imaging shows no obstruction. She has not received antibiotics. Which of the following dietary substances should be most restricted in this patient?
- A)Phenylalanine and tyrosine
- B)Galactose and lactose
- C)Leucine, lysine, and tryptophan
- D)Fructose and sucrose
- E)Valine, odd chain fatty acids, methionine, isoleucine, and threonineGABARITO
Explicação
This newborn has propionic acidemia due to propionyl CoA carboxylase deficiency. Metabolism of valine, odd chain fatty acids, methionine, isoleucine, and threonine generates propionyl CoA, so these substrates worsen the disorder. Organic acid accumulation inhi... Ver explicação completa e trilha adaptativa →