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Diagnosis of inherited disorders of galactose metabolism.
Curr Protoc Hum Genet. 2008 Jan; Chapter 17:Unit 17.5.CP

Abstract

Galactose metabolism occurs through an evolutionarily conserved pathway in which galactose and uridine diphosphoglucose are converted to glucose-1-phosphate and uridine diphosphogalactose through the action of three sequential enzymes: galactokinase (GALK, EC 2.7.1.6), galactose-1-phosphate uridyltransferase (GALT, EC 2.7.7.12), and uridine phosphogalactose 4'-epimerase (GALE, EC 5.1.3.2). Inborn errors of galactose metabolism occur with impaired activity for each of the enzymes. Classical galactosemia is the most common and the most severe of these diseases and is caused by deficiency of the GALT enzyme, affecting from approximately 1 in 10,000 to 1 in 30,000 live births. Deficiency of GALE is the rarest of the three diseases. Assays for galactitol and galactose-1-phosphate and methods for assaying enzyme activities of GALT, GALK, and GALE are provided here. Interpretation of diagnostic results for screen-positive newborns or symptomatic patients, as well as therapeutic interventions based on biochemical phenotype and molecular genotype, are also included as decision trees.

Authors+Show Affiliations

Leonard Miller School of Medicine, University of Miami, Miami, Florida, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18428423

Citation

Cuthbert, Carla, et al. "Diagnosis of Inherited Disorders of Galactose Metabolism." Current Protocols in Human Genetics, vol. Chapter 17, 2008, pp. Unit 17.5.
Cuthbert C, Klapper H, Elsas L. Diagnosis of inherited disorders of galactose metabolism. Curr Protoc Hum Genet. 2008;Chapter 17:Unit 17.5.
Cuthbert, C., Klapper, H., & Elsas, L. (2008). Diagnosis of inherited disorders of galactose metabolism. Current Protocols in Human Genetics, Chapter 17, Unit 5. https://doi.org/10.1002/0471142905.hg1705s56
Cuthbert C, Klapper H, Elsas L. Diagnosis of Inherited Disorders of Galactose Metabolism. Curr Protoc Hum Genet. 2008;Chapter 17:Unit 17.5. PubMed PMID: 18428423.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnosis of inherited disorders of galactose metabolism. AU - Cuthbert,Carla, AU - Klapper,Helene, AU - Elsas,Louis, PY - 2008/4/23/pubmed PY - 2008/5/28/medline PY - 2008/4/23/entrez SP - Unit 17.5 EP - Unit 17.5 JF - Current protocols in human genetics JO - Curr Protoc Hum Genet VL - Chapter 17 N2 - Galactose metabolism occurs through an evolutionarily conserved pathway in which galactose and uridine diphosphoglucose are converted to glucose-1-phosphate and uridine diphosphogalactose through the action of three sequential enzymes: galactokinase (GALK, EC 2.7.1.6), galactose-1-phosphate uridyltransferase (GALT, EC 2.7.7.12), and uridine phosphogalactose 4'-epimerase (GALE, EC 5.1.3.2). Inborn errors of galactose metabolism occur with impaired activity for each of the enzymes. Classical galactosemia is the most common and the most severe of these diseases and is caused by deficiency of the GALT enzyme, affecting from approximately 1 in 10,000 to 1 in 30,000 live births. Deficiency of GALE is the rarest of the three diseases. Assays for galactitol and galactose-1-phosphate and methods for assaying enzyme activities of GALT, GALK, and GALE are provided here. Interpretation of diagnostic results for screen-positive newborns or symptomatic patients, as well as therapeutic interventions based on biochemical phenotype and molecular genotype, are also included as decision trees. SN - 1934-8258 UR - https://www.unboundmedicine.com/medline/citation/18428423/Diagnosis_of_inherited_disorders_of_galactose_metabolism_ L2 - https://doi.org/10.1002/0471142905.hg1705s56 DB - PRIME DP - Unbound Medicine ER -