Tags

Type your tag names separated by a space and hit enter

Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs.
Clin Chim Acta. 1983 Mar 14; 128(2-3):271-81.CC

Abstract

The kinetic characteristics and isoelectrofocusing patterns of uridyltransferase and the concentrations of galactose-1-phosphate in hemolysates were investigated in a family with compound variants of Duarte and classical galactosemia. There were no significant differences in Km values between the genotypes. However, the isoelectrofocusing study with thin-layer polyacrylamide gels (PAGIF) as well as with agarose gels (AGIF) showed a distinctive difference. The enzyme from the Duarte variant resolved into at least two more activity bands at pH between 5.2 and 5.4. The accumulation of galactose-1-phosphate was observed only in homozygotes for classical galactosemia. Compound heterozygotes (G-D) without any clinical manifestations did not show an accumulation of galactose-1-phosphate. The isoelectrofocusing study of the enzyme in human tissues revealed their activity resolving into multiple bands, 6-8 bands at pH 5.50-6.00 and 1-3 bands at pH 4.9-5.2. No significant differences were found in the patterns between fetal and adult liver except that the intensity of the anodic bands (pH 4.9-5.2) was weaker in fetal tissues. Prenatal diagnosis of classical galactosemia was performed in nine families by measuring the enzyme activity in cultivated amniotic fluid cells. Absence of the enzyme activity in amniotic fluid cells was found in two cases, and in four cases the heterozygosity was diagnosed by a relative low enzyme activity, 30-50% of the activity in control cells cultured in parallel.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

6303628

Citation

Shin, Y S., et al. "Prenatal Diagnosis of Galactosemia and Properties of Galactose-1-phosphate Uridyltransferase in Erythrocytes of Galactosemic Variants as Well as in Human Fetal and Adult Organs." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 128, no. 2-3, 1983, pp. 271-81.
Shin YS, Endres W, Rieth M, et al. Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs. Clin Chim Acta. 1983;128(2-3):271-81.
Shin, Y. S., Endres, W., Rieth, M., & Schaub, J. (1983). Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs. Clinica Chimica Acta; International Journal of Clinical Chemistry, 128(2-3), 271-81.
Shin YS, et al. Prenatal Diagnosis of Galactosemia and Properties of Galactose-1-phosphate Uridyltransferase in Erythrocytes of Galactosemic Variants as Well as in Human Fetal and Adult Organs. Clin Chim Acta. 1983 Mar 14;128(2-3):271-81. PubMed PMID: 6303628.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs. AU - Shin,Y S, AU - Endres,W, AU - Rieth,M, AU - Schaub,J, PY - 1983/3/14/pubmed PY - 1983/3/14/medline PY - 1983/3/14/entrez SP - 271 EP - 81 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin Chim Acta VL - 128 IS - 2-3 N2 - The kinetic characteristics and isoelectrofocusing patterns of uridyltransferase and the concentrations of galactose-1-phosphate in hemolysates were investigated in a family with compound variants of Duarte and classical galactosemia. There were no significant differences in Km values between the genotypes. However, the isoelectrofocusing study with thin-layer polyacrylamide gels (PAGIF) as well as with agarose gels (AGIF) showed a distinctive difference. The enzyme from the Duarte variant resolved into at least two more activity bands at pH between 5.2 and 5.4. The accumulation of galactose-1-phosphate was observed only in homozygotes for classical galactosemia. Compound heterozygotes (G-D) without any clinical manifestations did not show an accumulation of galactose-1-phosphate. The isoelectrofocusing study of the enzyme in human tissues revealed their activity resolving into multiple bands, 6-8 bands at pH 5.50-6.00 and 1-3 bands at pH 4.9-5.2. No significant differences were found in the patterns between fetal and adult liver except that the intensity of the anodic bands (pH 4.9-5.2) was weaker in fetal tissues. Prenatal diagnosis of classical galactosemia was performed in nine families by measuring the enzyme activity in cultivated amniotic fluid cells. Absence of the enzyme activity in amniotic fluid cells was found in two cases, and in four cases the heterozygosity was diagnosed by a relative low enzyme activity, 30-50% of the activity in control cells cultured in parallel. SN - 0009-8981 UR - https://www.unboundmedicine.com/medline/citation/6303628/Prenatal_diagnosis_of_galactosemia_and_properties_of_galactose_1_phosphate_uridyltransferase_in_erythrocytes_of_galactosemic_variants_as_well_as_in_human_fetal_and_adult_organs_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0009-8981(83)90327-3 DB - PRIME DP - Unbound Medicine ER -