Another Biochemical Variant of Galactose mia

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

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%”

26 KELLY, DZIERW.4, A?;11 BASWELL

B.\KI;R. L., MELLM.IN, W. J., TEDEXO, T., and &GAL, S. (lQti(i). Gnlactosemin: Hympto-

matic alld asymptomatic homozygotes in one ?7egro sibship. J. P&i&. 68, 551-558. BI:u,~I,I:I<, H., B.~LuD.\, &I., alld I$OSNISLL, G. (1Qlil). A new method for the detect,ion of

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.

HsI.\, 1). Y-Y. (1967). Clinical variants of galactosemia. Xetnboliaul 16, 119~-l37. HsI.\, I). T-Y., and W.\LKER, F. A. (191X). Varixbilit,y in the clillicnl manifestations of

galactcosemia. J. PerJitrr. 59, 872-883.

MOORE, G. IX., ITO, E., Ur,tt~cr-~, K., and S.\NIJIHSI~G, A. A. (19Gli). Culture of humall leukemia c-ells. f-‘nnco 19, 713-733.

NADLICI~, II. L., IKO~YIC, T., and HSI.Z, D. Y-T. (lQC,i). Lencocyte transfernsc in Negroes. Lancef 2, 157.

O’BRIFD, I>., and IUUOTY, F. A. (1962). “Laboratory Manual of Pediatric Micro- and Ultra- micro-biochemical Techniques, p. 123. Harper and Itow, New Pork.

&GIL, S., BLMK, A., and llopr~, H. (lQli5). The metabolism of galactose by patients with colrgettital galact,osemia. .-I,,L. J. ‘Iled. 38, 62-70.

WEISS, L. P., and FI\VCI;TT, 1). W. (1953). Cytochemical observation on chicken mono- cytes, macrophages and giant cells in tissue culture. J. Hislochettl. Cvfochem. 1, 47-(i5.