Pseudodominant Transmission of Fructose Intolerance in an Adult and Three Offspring: Heterozygote Detection by Intestinal Biopsy

Timothy M. Cox, Michael Camilleri, Martin W. O'donnell, Vinton S. Chadwick, Vinton S. Chadwick

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

HEREDITARY fructose intolerance is an inborn error of metabolism characterized by abdominal pain, vomiting, and hypoglycemia, which follow the ingestion of fructose.1 The disorder is associated with a deficiency of aldolase B in the liver, kidney, and intestinal mucosa.2 3 4 Although fructose intolerance is generally regarded as an autosomal recessive condition, transmission of overt disease from parents to offspring in a few nonconsanguineous families has suggested the possibility of genetic heterogeneity.1,5,6 However, the exact mode of inheritance cannot be defined in the absence of suitable methods to detect putative heterozygotes.7 8 9 We report studies in an unusual family with fructose intolerance in.

Original languageEnglish (US)
Pages (from-to)537-540
Number of pages4
JournalNew England Journal of Medicine
Volume307
Issue number9
DOIs
StatePublished - Aug 26 1982

ASJC Scopus subject areas

  • Medicine(all)

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