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Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity.
Clin Chem. 1982 Feb; 28(2):301-5.CC

Abstract

We correlated the clinical symptoms of transferase-deficient galactosemia with the plasma galactose and erythrocyte galactose-1-phosphate concentrations in six galactosemic patients during dietary treatment, in a child before treatment, and in 12 individuals with below-normal erythrocyte hexose-1-phosphate uridylyltransferase activity. All the treated patients were asymptomatic. Normal galactose and either normal or above-normal galactose-1-phosphate concentrations were found. Three of these patients were clinically normal as newborns while ingesting galactose-containing foods and may resemble the asymptomatic Negro galactosemic. The clinical symptoms of galactosemia were observed in the untreated patient, who showed markedly above-normal concentrations of galactose and galactose-1-phosphate, protein and reducing substances in the urine, above-normal bilirubin and alkaline phosphatase in the plasma, with normal values for glucose, aspartate aminotransferase, alanine aminotransferase, and gamma-glutamyltransferase. Clinical improvement in this patient paralleled the decline in erythrocyte galactose-1-phosphate. The individuals with below-normal hexose-1-phosphate uridylyltransferase activity (range 7--17 U/g of hemoglobin) had normal galactose and galactose-1-phosphate concentrations and were asymptomatic.

Authors

Pesce MA
No affiliation info available
Bodourian SH
No affiliation info available

MeSH

AdolescentAdultChildChild, PreschoolErythrocytesFemaleGalactosemiasGalactosephosphatesHexosephosphatesHumansInfantInfant, NewbornMaleNucleotidyltransferasesPlasmaUDPglucose-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Journal Article

Language

eng

PubMed ID

6276048

Citation

Pesce, M A., and S H. Bodourian. "Clinical Significance of Plasma Galactose and Erythrocyte Galactose-1-phosphate Measurements in Transferase-deficient Galactosemia and in Individuals With Below-normal Transferase Activity." Clinical Chemistry, vol. 28, no. 2, 1982, pp. 301-5.
Pesce MA, Bodourian SH. Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity. Clin Chem. 1982;28(2):301-5.
Pesce, M. A., & Bodourian, S. H. (1982). Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity. Clinical Chemistry, 28(2), 301-5.
Pesce MA, Bodourian SH. Clinical Significance of Plasma Galactose and Erythrocyte Galactose-1-phosphate Measurements in Transferase-deficient Galactosemia and in Individuals With Below-normal Transferase Activity. Clin Chem. 1982;28(2):301-5. PubMed PMID: 6276048.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity. AU - Pesce,M A, AU - Bodourian,S H, PY - 1982/2/1/pubmed PY - 1982/2/1/medline PY - 1982/2/1/entrez SP - 301 EP - 5 JF - Clinical chemistry JO - Clin Chem VL - 28 IS - 2 N2 - We correlated the clinical symptoms of transferase-deficient galactosemia with the plasma galactose and erythrocyte galactose-1-phosphate concentrations in six galactosemic patients during dietary treatment, in a child before treatment, and in 12 individuals with below-normal erythrocyte hexose-1-phosphate uridylyltransferase activity. All the treated patients were asymptomatic. Normal galactose and either normal or above-normal galactose-1-phosphate concentrations were found. Three of these patients were clinically normal as newborns while ingesting galactose-containing foods and may resemble the asymptomatic Negro galactosemic. The clinical symptoms of galactosemia were observed in the untreated patient, who showed markedly above-normal concentrations of galactose and galactose-1-phosphate, protein and reducing substances in the urine, above-normal bilirubin and alkaline phosphatase in the plasma, with normal values for glucose, aspartate aminotransferase, alanine aminotransferase, and gamma-glutamyltransferase. Clinical improvement in this patient paralleled the decline in erythrocyte galactose-1-phosphate. The individuals with below-normal hexose-1-phosphate uridylyltransferase activity (range 7--17 U/g of hemoglobin) had normal galactose and galactose-1-phosphate concentrations and were asymptomatic. SN - 0009-9147 UR - https://www.unboundmedicine.com/medline/citation/6276048/Clinical_significance_of_plasma_galactose_and_erythrocyte_galactose_1_phosphate_measurements_in_transferase_deficient_galactosemia_and_in_individuals_with_below_normal_transferase_activity_ L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -