PMID: 6408303Jan 1, 1983Paper

Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation

Journal of Inherited Metabolic Disease
M J HendersonR MacFaul

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.

References

Mar 15, 1980·Lancet·J T AllenB R Pettit
Nov 1, 1981·Archives of Disease in Childhood·J B HoltonR Young

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Citations

Jan 1, 1990·Journal of Inherited Metabolic Disease·J B Holton
Jan 1, 1986·Journal of Inherited Metabolic Disease·F G Bowling, A R Brown
Oct 1, 1987·Clinical Biochemistry·D C JinksR Guthrie
May 8, 1986·The New England Journal of Medicine·R SandykR P Iacono
Mar 23, 1999·Archives of Disease in Childhood·J H WalterR MacFaul
Jan 1, 1995·European Journal of Pediatrics·S Segal
Oct 28, 2009·IUBMB Life·Kent LaiKlaas J Wierenga
Aug 1, 1991·Clinical Biochemistry·E Beutler
May 1, 1989·Survey of Ophthalmology·P C Clemens
Dec 1, 1983·The Journal of Pediatrics·L R GaribaldiC Borrone
Dec 11, 2019·The Journal of Biological Chemistry·Alex BroussardMichael Boyce

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