Prenatal diagnosis of disorders of galactose metabolism

Journal of Inherited Metabolic Disease
J B HoltonM G Gillett

Abstract

Of three clinically significant galactose disorders, there is only a real need and experience of prenatal diagnosis in classical galactosaemia. Prenatal diagnosis for this disorder may be carried out by galactose-1-phosphate uridyl transferase assay in cultured amniotic fluid cells or in chorionic villus biopsies and by galactitol estimation in amniotic fluid supernatant. Although the long-term outcome of patients treated on a galactose-restricted diet is recognized to be unsatisfactory, prenatal diagnosis is only rarely performed with a view to terminating the affected pregnancy.

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Citations

Jan 1, 1990·Journal of Inherited Metabolic Disease·J B Holton
May 15, 1989·Clinica Chimica Acta; International Journal of Clinical Chemistry·R GitzelmannP Tuchschmid
Apr 1, 1993·Clinical Biochemistry·D C Lehotay
May 1, 1992·Pediatric Neurology·T K KochS Packman
Jul 1, 1993·Baillière's Clinical Endocrinology and Metabolism·J W Gregory, A Aynsley-Green
Jan 1, 2014·Experimental and Toxicologic Pathology : Official Journal of the Gesellschaft Für Toxikologische Pathologie·Natalia N BezborodkinaBoris N Kudryavtsev
Jan 1, 1995·European Journal of Pediatrics·C JakobsJ B Holton
Jan 1, 1992·Human Mutation·J K Reichardt
Jun 29, 2010·Molecular Genetics and Metabolism·Roman YusupovHarvey L Levy
Oct 1, 1990·Clinical Biochemistry·C van der Heiden
Sep 1, 1990·Blood Reviews·A N Lestas, A J Bellingham
Oct 1, 1992·Genomics·N D LeslieL J Elsas
Feb 11, 2021·Journal of Personalized Medicine·Samantha BanfordDavid J Timson

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