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Article

Molecular evidence for compound heterozygosity in hereditary fructose intolerance.

American journal of human genetics - 1 Jun 1990

Dazzo C, Tolan D R

Abstract excerpt

Hereditary fructose intolerance (HFI) is an inborn error of metabolism, inherited as an autosomal recessive disorder and caused by a decrease in the activity of fructose-1-phosphate aldolase (aldolase B) in affected individuals. Investigation of the molecular basis of HFI is reported here by the identification of two molecular lesions in the aldolase B gene of the HFI individual. Using polymerase chain reaction...

Topics

Adult
Amino Acid Sequence
Base Sequence
Female
Fructose Intolerance
Fructose Metabolism, Inborn Errors
Fructose-Bisphosphate Aldolase
Heterozygote
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 2339710
PMCID: PMC1683824

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2339710-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Molecular evidence for compound heterozygosity in hereditary fructose intolerance.PMID 2339710Read ↗

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