Prenatal determination of uridine diphosphate galactose-4-epimerase activity |
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| Authors: | M. G. Gillett J. B. Holton R. Macfaul |
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| Affiliation: | Department of Clinical Chemistry, Southmead Hospital, Bristol and Department of Paediatrics, Pinderfields Hospital, Wakefield, U.K. |
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| Abstract: | A prenatal diagnosis has been performed in a pregnancy at risk for uridine diphosphate galactose-4-epimerase deficiency, an enzyme variation causing severe symptoms in the neonatal period similar to those of classical galactosaemia. The postnatal enzyme investigation, and uneventful development of the child, indicate that the prediction of an unaffected, heterozygous, fetus was correct. |
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| Keywords: | Galactosaemia Uridine diphosphate galactose-4-epimerase deficiency Prenatal diagnosis |
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