A 9 month old boy is evaluated for vomiting, diaphoresis, and lethargy that occur shortly after fruit puree is introduced into his diet. His parents report that he was previously well while exclusively breastfed. Examination shows hepatomegaly. Laboratory studies reveal hypoglycemia, elevated AST and ALT, and low serum phosphate. Which of the following is the most likely diagnosis?
- A)Essential fructosuria
- B)Classic galactosemia
- C)Medium chain acyl CoA dehydrogenase deficiency
- D)Hereditary fructose intoleranceGABARITO
- E)Pyruvate dehydrogenase deficiency
Explicação
This infant has hereditary fructose intolerance caused by aldolase B deficiency. After fructose ingestion, fructose 1 phosphate accumulates, trapping phosphate and impairing glycogenolysis and gluconeogenesis, which leads to hypoglycemia, vomiting, and liver i... Ver explicação completa e trilha adaptativa →