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  • Title: Uridine diphosphate galactose 4-epimerase deficiency.
    Author: Oyanagi K, Nakata F, Hirano S, Sogawa H, Takayanagi N, Minami R, Tsugawa S, Nakao T, Ichihara N.
    Journal: Eur J Pediatr; 1981 Feb; 135(3):303-4. PubMed ID: 7227386.
    Abstract:
    A case of uridine diphosphate galactose (UDP-Gal) 4-epimerase deficiency was discovered by mass screening of newborn infants. UDP-Gal 4-epimerase activity of red blood cells from the patient was found to be remarkably low, i.e., 7.5% of the level in normal controls at comparable ages. The parents showed intermediate values between those of the patient and controls. The enzyme activity in a specimen of liver tissue obtained from the patient by needle biopsy revealed a normal value. Subsequently, two other families with the condition were found by mass screening and these individuals were found to be heterozygotes.
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