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Another Biochemical Variant of Galactose mia
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CD presumed carrier by pedigree
M .
FIG. 1. Gerle defect in D.C. and RI families hy pedigree and erythrocyte transferase. I 1 it)
J>.C.‘s family was Ilot tested.
TABLE I
PGAL THAKSFERASE IN THE RI ANI) D.C. FAMILIES
Family ,“l’o. of members Range of transferase
(true relativesj junits/gm Hgb) Probable genotypes
G 7.41-14.7 Normal
9 0.09-4.35 IIeterozygous 1 <0.05 Homozygous
D.C. 10 5.30-22.2 Normal 2 1.31, 4.32 Heteroxygous
1 <0.05 TIomosygous 1 (mother) 12.1 ?
ma1 ( < 3 units/gm Hgb), in those from his pare& + and nine relatives, including
seven aihlings (Table I). The pat,tern in D.C.‘s family was unusual, in that kansferase in samples from the
galnctosemic’s mot’hcr \vas I\-ithin the normal range (Table I). Partial deficiencies were detected in t’he father’s samples and in t,hat of a paternal cousin (Fig. 1). The quantitative assays confirmed estimat’es of relative enzyme activities (Beutlcr et al., 1964) in earlier samples from both parents. The father’s deficiency was apparent
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G.4WC’TUSE.\lI.4 V.4RlANT
15-day cllltrlre Father, II 3 <0.002 (‘olmil~, III 2 <o.oo” (‘olllrl,ls 13) 0.0%”
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26 KELLY, DZIERW.4, A?;11 BASWELL
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galactosemia and its carrier state. .I. I&. (,‘lin. Xed. 64, (i94-705. BI~UTLI:I~. E., I~.LY, II., B.\LUDA, M., alld POLK, K. (19(i5). Screening for galactosemin among
mentally ret,:trded patients. J. Mcrsfo/ Dq/icienc!/ Ties. 9, (il-G8. L)ONSI,:I,L, G. N., BUWRRN, IV. IL., BILI~X~L’HIUIEIL, Ii. K., and H.ZNSEN, 1L. G. (1960). The
eluymntic esprcssiott of heterozygosit,y ill families of children wit,h gslactosemia. Perliatrics 25, 5i2p5Sl.
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