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Prenatal diagnosis of galactosemia.
Clin Chim Acta. 1977 Feb 01; 74(3):227-35.CC

Abstract

Prenatal diagnosis of disorders of galactose metabolism was done in one instance in a family with a known galactokinase deficiency and in six cases in five families at risk for galactosemia. The galactokinase activity in cultured amniotic cells was found to be normal, and the diagnosis was confirmed postnatally. In the six pregnancies at risk for galactosemia, four were considered to be unaffected and two to be affected. Of the latter, one was carried to term, and the erythrocyte transferase activity of the baby was shown to be absent. The other pregnancy was terminated, and examination of fetal tissues by biochemical studies confirmed the diagnosis. This experience substantiates the concept that prenatal diagnosis of disorders of galactose metabolism is feasible.

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Publisher Full Text

Authors

Ng WG
No affiliation info available
Donnell GN
No affiliation info available
Bergren WR
No affiliation info available
Alfi O
No affiliation info available
Golbus MS
No affiliation info available

MeSH

Amniotic FluidCells, CulturedClinical Enzyme TestsElectrophoresis, Starch GelErythrocytesFemaleFetusFibroblastsGalactoseGalactosemiasHumansLiverLungPhosphotransferasesPregnancyPrenatal DiagnosisSkinUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

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

Language

eng

PubMed ID

188570

Citation

Ng, W G., et al. "Prenatal Diagnosis of Galactosemia." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 74, no. 3, 1977, pp. 227-35.
Ng WG, Donnell GN, Bergren WR, et al. Prenatal diagnosis of galactosemia. Clin Chim Acta. 1977;74(3):227-35.
Ng, W. G., Donnell, G. N., Bergren, W. R., Alfi, O., & Golbus, M. S. (1977). Prenatal diagnosis of galactosemia. Clinica Chimica Acta; International Journal of Clinical Chemistry, 74(3), 227-35.
Ng WG, et al. Prenatal Diagnosis of Galactosemia. Clin Chim Acta. 1977 Feb 1;74(3):227-35. PubMed PMID: 188570.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of galactosemia. AU - Ng,W G, AU - Donnell,G N, AU - Bergren,W R, AU - Alfi,O, AU - Golbus,M S, PY - 1977/2/1/pubmed PY - 1977/2/1/medline PY - 1977/2/1/entrez SP - 227 EP - 35 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin Chim Acta VL - 74 IS - 3 N2 - Prenatal diagnosis of disorders of galactose metabolism was done in one instance in a family with a known galactokinase deficiency and in six cases in five families at risk for galactosemia. The galactokinase activity in cultured amniotic cells was found to be normal, and the diagnosis was confirmed postnatally. In the six pregnancies at risk for galactosemia, four were considered to be unaffected and two to be affected. Of the latter, one was carried to term, and the erythrocyte transferase activity of the baby was shown to be absent. The other pregnancy was terminated, and examination of fetal tissues by biochemical studies confirmed the diagnosis. This experience substantiates the concept that prenatal diagnosis of disorders of galactose metabolism is feasible. SN - 0009-8981 UR - https://www.unboundmedicine.com/medline/citation/188570/Prenatal_diagnosis_of_galactosemia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0009-8981(77)90289-3 DB - PRIME DP - Unbound Medicine ER -