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The Chicago variant of clinical galactosemia.
Hum Genet. 1977 Jul 26; 37(3):261-70.HG

Abstract

A new variant of clinical galactosemia with two hitherto unidentified alleles on the transferase locus in one family is described. This new clinical variant of transferase has 25% of normal control activity in blood and in skin fibroblasts, and the patient accumulates galactose-1-phosphate in blood on an unrestricted galactose diet. Using starch gel electrophoresis on the hemolysate of the family members, a fast-moving transferase with mobility in between those of the normal control and of the Duarte variant is identified. This new allele is designated as GALTC1 (fast-moving Chicago variant). In addition, a second new allele was documented in this family by studying the instability of the transferase enzyme in hemolysates of family members at 50 degrees C for various time intervals. This new allele is designated as GALTC2 (heat-labile Chicago variant). On the basis of these studies, the transferase genotype of this patient is thought to be a double heterozygote compound, GALTC1/GALTG.

Authors

Chacko CM
No affiliation info available
Wappner RS
No affiliation info available
Brandt IK
No affiliation info available
Nadler HL
No affiliation info available

MeSH

AllelesChild, PreschoolElectrophoresis, Starch GelFibroblastsGalactosemiasGenotypeHeterozygoteHot TemperatureHumansMaleSkinUDPglucose-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

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

Language

eng

PubMed ID

885545

Citation

Chacko, C M., et al. "The Chicago Variant of Clinical Galactosemia." Human Genetics, vol. 37, no. 3, 1977, pp. 261-70.
Chacko CM, Wappner RS, Brandt IK, et al. The Chicago variant of clinical galactosemia. Hum Genet. 1977;37(3):261-70.
Chacko, C. M., Wappner, R. S., Brandt, I. K., & Nadler, H. L. (1977). The Chicago variant of clinical galactosemia. Human Genetics, 37(3), 261-70.
Chacko CM, et al. The Chicago Variant of Clinical Galactosemia. Hum Genet. 1977 Jul 26;37(3):261-70. PubMed PMID: 885545.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Chicago variant of clinical galactosemia. AU - Chacko,C M, AU - Wappner,R S, AU - Brandt,I K, AU - Nadler,H L, PY - 1977/7/26/pubmed PY - 1977/7/26/medline PY - 1977/7/26/entrez SP - 261 EP - 70 JF - Human genetics JO - Hum Genet VL - 37 IS - 3 N2 - A new variant of clinical galactosemia with two hitherto unidentified alleles on the transferase locus in one family is described. This new clinical variant of transferase has 25% of normal control activity in blood and in skin fibroblasts, and the patient accumulates galactose-1-phosphate in blood on an unrestricted galactose diet. Using starch gel electrophoresis on the hemolysate of the family members, a fast-moving transferase with mobility in between those of the normal control and of the Duarte variant is identified. This new allele is designated as GALTC1 (fast-moving Chicago variant). In addition, a second new allele was documented in this family by studying the instability of the transferase enzyme in hemolysates of family members at 50 degrees C for various time intervals. This new allele is designated as GALTC2 (heat-labile Chicago variant). On the basis of these studies, the transferase genotype of this patient is thought to be a double heterozygote compound, GALTC1/GALTG. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/885545/The_Chicago_variant_of_clinical_galactosemia_ L2 - https://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -