Molecular Genetics of Galactosaemia

Research output: Chapter in Book/Conference proceeding with ISSN or ISBNChapter

Abstract

Galactosaemia is a relatively rare, genetic disease that commonly manifests with cataracts in childhood. More severe forms result in significant developmental abnormalities resulting in physical and cognitive disabilities. Three genes are affected: galactose 1‐phosphate uridylyltransferase (GALT; type I galactosaemia), galactokinase (GALK1; type II) and UDP‐galactose 4'‐epimerase (GALE; type III). Clinical outcomes vary widely in severity and depend on the gene affected, the precise mutation(s) present and the patient's environment. The disease can be diagnosed by altered metabolite levels, reduced enzyme activity and sequencing of the affected gene. In many cases, mutations in one of these three genes result in a protein that is unstable and/or misfolded with consequent reduction in enzymatic activity. Understanding how loss of activity of these enzymes results in the disease phenotypes is a key priority in current research.
Original languageEnglish
Title of host publicationeLS
Place of PublicationChichester
PublisherJohn Wiley & Sons Ltd
DOIs
Publication statusPublished - 15 May 2017

Fingerprint

Galactosemias
Molecular Biology
Genes
UDPglucose 4-Epimerase
Galactokinase
Mutation
Inborn Genetic Diseases
Enzymes
Rare Diseases
Galactose
Cataract
Phenotype
Research
Proteins

Cite this

Timson, David. / Molecular Genetics of Galactosaemia. eLS. Chichester : John Wiley & Sons Ltd, 2017.
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Molecular Genetics of Galactosaemia. / Timson, David.

eLS. Chichester : John Wiley & Sons Ltd, 2017.

Research output: Chapter in Book/Conference proceeding with ISSN or ISBNChapter

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AB - Galactosaemia is a relatively rare, genetic disease that commonly manifests with cataracts in childhood. More severe forms result in significant developmental abnormalities resulting in physical and cognitive disabilities. Three genes are affected: galactose 1‐phosphate uridylyltransferase (GALT; type I galactosaemia), galactokinase (GALK1; type II) and UDP‐galactose 4'‐epimerase (GALE; type III). Clinical outcomes vary widely in severity and depend on the gene affected, the precise mutation(s) present and the patient's environment. The disease can be diagnosed by altered metabolite levels, reduced enzyme activity and sequencing of the affected gene. In many cases, mutations in one of these three genes result in a protein that is unstable and/or misfolded with consequent reduction in enzymatic activity. Understanding how loss of activity of these enzymes results in the disease phenotypes is a key priority in current research.

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