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Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation.
J Inherit Metab Dis. 1983; 6(1):17-20.JI

Abstract

The red-cell concentrations of galactose-1-phosphate and uridine diphosphate galactose have been studied in relation to dietary galactose in a case of uridine diphosphate galactose-4-epimerase deficiency (McKusick 23035). Uridine diphosphate galactose accumulates rapidly in response to very small amounts of galactose but the concentration of galactose-1-phosphate increases proportionately to galactose intake. The significance of the observation is discussed with respect to the pathogenesis and treatment of the disease.

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Authors

Henderson MJ
No affiliation info available
Holton JB
No affiliation info available
MacFaul R
No affiliation info available

MeSH

BiotransformationCarbohydrate EpimerasesDietary CarbohydratesErythrocytesFemaleGalactoseGalactosemiasGalactosephosphatesHumansInfantInfant, NewbornUDPglucose 4-EpimeraseUridine Diphosphate Galactose

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6408303

Citation

Henderson, M J., et al. "Further Observations in a Case of Uridine Diphosphate Galactose-4-epimerase Deficiency With a Severe Clinical Presentation." Journal of Inherited Metabolic Disease, vol. 6, no. 1, 1983, pp. 17-20.
Henderson MJ, Holton JB, MacFaul R. Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. J Inherit Metab Dis. 1983;6(1):17-20.
Henderson, M. J., Holton, J. B., & MacFaul, R. (1983). Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. Journal of Inherited Metabolic Disease, 6(1), 17-20.
Henderson MJ, Holton JB, MacFaul R. Further Observations in a Case of Uridine Diphosphate Galactose-4-epimerase Deficiency With a Severe Clinical Presentation. J Inherit Metab Dis. 1983;6(1):17-20. PubMed PMID: 6408303.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. AU - Henderson,M J, AU - Holton,J B, AU - MacFaul,R, PY - 1983/1/1/pubmed PY - 1983/1/1/medline PY - 1983/1/1/entrez SP - 17 EP - 20 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 6 IS - 1 N2 - The red-cell concentrations of galactose-1-phosphate and uridine diphosphate galactose have been studied in relation to dietary galactose in a case of uridine diphosphate galactose-4-epimerase deficiency (McKusick 23035). Uridine diphosphate galactose accumulates rapidly in response to very small amounts of galactose but the concentration of galactose-1-phosphate increases proportionately to galactose intake. The significance of the observation is discussed with respect to the pathogenesis and treatment of the disease. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/6408303/Further_observations_in_a_case_of_uridine_diphosphate_galactose_4_epimerase_deficiency_with_a_severe_clinical_presentation_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1983&volume=6&issue=1&spage=17 DB - PRIME DP - Unbound Medicine ER -