Pseudodominant Transmission of Fructose Intolerance in an Adult and Three Offspring

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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 . . .