1208 GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE SCREENING

Abstract

Galactose-1-phosphate uridlytransferase (Gal-1-PUT) deficiency is an inborn error of metabolism transmitted as an autosomal recessive trait. Gal-1-PUT Screening was performed in all the newborns delivered at Hubbard Hospital of Meharry Medical College for an early detection of this deficiency. The appearance of fluorescent NADPH after incubating the blood spot with Gal-1-P, UDPG and NADP was used as a screening test. 2134 newborns were screened during May 1979-Sept. 1984. Three abnormal tests were detected initialy. After repeating the screening test and quantitating the Gal-1-PUT, one case of this deficiency was established. Two false positives were presumably due to insufficient blood on the spot. This patient is a full term first born male to a Black mother. Gal-1-PUT was quantitated in erythrocytes by UDPG consumption test. The patient had 1.6 units of activity, however, mother and her brother had 10.7 and 6.4 units respectively. Utilization of one micromole of UDPG per gram hemoglobin per hour is defined as one unit. Patient was placed on modified galactose free diet and successfully treated. His growth and development are within normal limits for his age. Several variants of Gal-1-PUT deficiency have been reported. The black variant of this deficiency has an extensive capacity for the galactose metabolism. Incidence of this variant is extremely rare. Identification of a black patient at our hospital, which serves a predominantly black community is an interesting observation. (Supported by Maternal and Child Health Care Grant No. 440).

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