Proc Natl Acad Sci U S A. 1975 Dec;72(12):5026-30.

Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.

Mitchell B, Haigis E, Steinmann B, Gitzelmann R.

Abstract

Stimulation with phytohemagglutinin of the leukocytes from six of the seven known individuals with UDP-galactose 4-epimerase (= UDP-glucose 4-epimerase; EC 5.1.3.2) deficiency consistently resulted in the appearance of epimerase activity in the cultured cells. A long-term lymphoblast culture derived from one proband also contained an active epimerase enzyme. A comparison of the properties of this enzyme with those of epimerase produced by control lymphoblast lines revealed comparable Km values for UDP-galactose and NAD and identical behavior on polyacrylamide electrophoresis. However, a difference in the NAD requirement for heat stability at 40 degree provided some evidence for a structural defect in this enzyme. Possible explanations for the appearance of UDP-galactose 4-epimerase activity in stimulated lymphocytes include an increased rate of synthesis of a mutant enzyme and a derepression of an epimerase locus during lymphocyte transformation.

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PMCID:: PMC388868

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Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. [Helv Paediatr Acta. 1977]
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Cited by 3 PubMed Central articles

Epimerase-deficiency galactosemia is not a binary condition. [Am J Hum Genet. 2006]
Epimerase-deficiency galactosemia is not a binary condition.
Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, et al. Am J Hum Genet. 2006 Jan; 78(1):89-102. Epub 2005 Nov 14.
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. [Am J Hum Genet. 1999]
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL. Am J Hum Genet. 1999 Feb; 64(2):462-70.
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. [Am J Hum Genet. 1997]
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL. Am J Hum Genet. 1997 Sep; 61(3):590-8.

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