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Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families.
Helv Paediatr Acta. 1977 Apr; 31(6):441-52.HP

Abstract

Eight persons who had no activity of uridine diphosphate galactose 4'-epimerase in their circulating blood cells are known today. They were healthy members of three different families. Propositi were newborns discovered in a mass screening test for blood galactose which registered high levels of erythrocyte galactose-1-phosphate. Epimerase deficiency was restricted to circulating blood cells, but in liver biopsy specimens, in cultured skin fibroblasts and in activated lymphocytes epimerase was found to be normally active. Heterozygotes had intermediate red cell epimerase activity. There were no symptoms of galactose intolerance and no pathology related to the enzyme defect. All 8 epimerase deficient persons had a ccdee Rhesus genotype. Attempts at demonstrating genetic linkage between the epimerase and Rhesus loci were unsuccessful because of the difficulty encountered in ascertaining epimerase heterozygosity. Individuals with hereditary UDP-galactose 4'-epimerase deficiency appear to produce an unstable mutant enzyme requiring higher NAD concentration for maximum activity.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

404274

Citation

Gitzelmann, R, et al. "Uridine Diphosphate Galactose 4'-epimerase Deficiency. IV. Report of Eight Cases in Three Families." Helvetica Paediatrica Acta, vol. 31, no. 6, 1977, pp. 441-52.
Gitzelmann R, Steinmann B, Mitchell B, et al. Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. Helv Paediatr Acta. 1977;31(6):441-52.
Gitzelmann, R., Steinmann, B., Mitchell, B., & Haigis, E. (1977). Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. Helvetica Paediatrica Acta, 31(6), 441-52.
Gitzelmann R, et al. Uridine Diphosphate Galactose 4'-epimerase Deficiency. IV. Report of Eight Cases in Three Families. Helv Paediatr Acta. 1977;31(6):441-52. PubMed PMID: 404274.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. AU - Gitzelmann,R, AU - Steinmann,B, AU - Mitchell,B, AU - Haigis,E, PY - 1977/4/1/pubmed PY - 1977/4/1/medline PY - 1977/4/1/entrez SP - 441 EP - 52 JF - Helvetica paediatrica acta JO - Helv Paediatr Acta VL - 31 IS - 6 N2 - Eight persons who had no activity of uridine diphosphate galactose 4'-epimerase in their circulating blood cells are known today. They were healthy members of three different families. Propositi were newborns discovered in a mass screening test for blood galactose which registered high levels of erythrocyte galactose-1-phosphate. Epimerase deficiency was restricted to circulating blood cells, but in liver biopsy specimens, in cultured skin fibroblasts and in activated lymphocytes epimerase was found to be normally active. Heterozygotes had intermediate red cell epimerase activity. There were no symptoms of galactose intolerance and no pathology related to the enzyme defect. All 8 epimerase deficient persons had a ccdee Rhesus genotype. Attempts at demonstrating genetic linkage between the epimerase and Rhesus loci were unsuccessful because of the difficulty encountered in ascertaining epimerase heterozygosity. Individuals with hereditary UDP-galactose 4'-epimerase deficiency appear to produce an unstable mutant enzyme requiring higher NAD concentration for maximum activity. SN - 0018-022X UR - https://www.unboundmedicine.com/medline/citation/404274/Uridine_diphosphate_galactose_4'_epimerase_deficiency__IV__Report_of_eight_cases_in_three_families_ L2 - https://www.diseaseinfosearch.org/result/2972 DB - PRIME DP - Unbound Medicine ER -