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Rennes-like variant of galactosemia: clinical and biochemical studies.
J Pediatr. 1975 Jul; 87(1):50-57.JPed

Abstract

The first recognized case of a Rennes-like variant form of galactosemia in a Caucasian individual is described. Galactose-1-phosphate uridyl transferase activity was approximately 10% of the normal in both erythrocytes and cultured skin fibroblasts. Electrophoretic mobility of the variant enzyme in erythrocytes was slower than that of normal individuals and identical to that of the two cases originally reported from Rennes, France. In normal cultured skin fibroblasts, four transferase bands were found. In this tissue, the patient again had a slower moving transferase. It is proposed that in transferase variants an altered subunit results in a specifically altered enzyme mobility analogous for each tissue.

Authors

Hammersen G
No affiliation info available
Houghton S
No affiliation info available
Levy HL
No affiliation info available

MeSH

AdultClinical Enzyme TestsElectrophoresis, Starch GelErythrocytesFemaleFibroblastsGalactoseGalactosemiasGenesGenetic VariationHemolysisHumansInfantMaleNucleotidyltransferasesUTP-Hexose-1-Phosphate UridylyltransferaseUridine Diphosphate GlucoseUridine Diphosphate SugarsWhite People

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

1151546

Citation

Hammersen, G, et al. "Rennes-like Variant of Galactosemia: Clinical and Biochemical Studies." The Journal of Pediatrics, vol. 87, no. 1, 1975, pp. 50-57.
Hammersen G, Houghton S, Levy HL. Rennes-like variant of galactosemia: clinical and biochemical studies. J Pediatr. 1975;87(1):50-57.
Hammersen, G., Houghton, S., & Levy, H. L. (1975). Rennes-like variant of galactosemia: clinical and biochemical studies. The Journal of Pediatrics, 87(1), 50-57.
Hammersen G, Houghton S, Levy HL. Rennes-like Variant of Galactosemia: Clinical and Biochemical Studies. J Pediatr. 1975;87(1):50-57. PubMed PMID: 1151546.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rennes-like variant of galactosemia: clinical and biochemical studies. AU - Hammersen,G, AU - Houghton,S, AU - Levy,H L, PY - 1975/7/1/pubmed PY - 1975/7/1/medline PY - 1975/7/1/entrez SP - 50 EP - 57 JF - The Journal of pediatrics JO - J Pediatr VL - 87 IS - 1 N2 - The first recognized case of a Rennes-like variant form of galactosemia in a Caucasian individual is described. Galactose-1-phosphate uridyl transferase activity was approximately 10% of the normal in both erythrocytes and cultured skin fibroblasts. Electrophoretic mobility of the variant enzyme in erythrocytes was slower than that of normal individuals and identical to that of the two cases originally reported from Rennes, France. In normal cultured skin fibroblasts, four transferase bands were found. In this tissue, the patient again had a slower moving transferase. It is proposed that in transferase variants an altered subunit results in a specifically altered enzyme mobility analogous for each tissue. SN - 0022-3476 UR - https://www.unboundmedicine.com/medline/citation/1151546/Rennes_like_variant_of_galactosemia:_clinical_and_biochemical_studies_ DB - PRIME DP - Unbound Medicine ER -