Hereditary fructose intolerance.

Authors

  • A I Lopes Unidade de Gastrenterologia Pediátrica, Hospital de Santa Maria, Lisboa.
  • A G Almeida
  • A E Costa
  • A Costa
  • M Leite

DOI:

https://doi.org/10.20344/amp.2355

Abstract

Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients. We describe the first case of HFI with molecular analysis in a Portuguese child, presenting the same mutation of the aldolase B gene. The role of molecular studies in the diagnosis of HFI risk patients and their families is emphasized.

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How to Cite

1.
Lopes AI, Almeida AG, Costa AE, Costa A, Leite M. Hereditary fructose intolerance. Acta Med Port [Internet]. 1998 Dec. 30 [cited 2024 Feb. 25];11(12):1121-5. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/2355

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Arquivo Histórico