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Limit dextrinosis
45 6
Letters to the editor
ments carried out elsewhere with fetal and newborn monkeys? These results await final evaluation, but monkeys born about y~ hour after administration of pentobarbitaI (30 mg. per kilogram) to the mother remained in a comatose condition for 24 to 48 hours. The problems of management and mortality associated with these deeply anesthetized newborn monkeys were sufficient to make us extremely cautious about recommending that a group of newborn infants have the hazards of anesthesia added to the problem of perinatal asphyxia. Dr. Goodlin2 himself, in an earlier publication, has stated, "Direct extrapolation from the laboratory to clinical situations and from rabbits to man is hardly w a r r a n t e d . . . " We continue to agree with this and can only restate that our findings alone cannot be taken as an endorsement of the use of pentobarbkal clinically to protect newborn infants from the effects of anoxia. A. 0. M. CAMPBELL, M.B., J. E. MILLIGAN~ M.D.~ AND N. S. TALNER~ M.D.
REFERENCES 1. Dawes, G. S., James, L. S., Myers, R. E., and Ross, B. B.: Personal communication. 2. Goodlin, R. C.: Drug protection for fetal anoxia, Obst. & Gynee. 26: 9, 1965.
Limit dextrinosis To the Editor: In the JOURNAL OF PEDIATRICS72: 214, i968, Christine Williams and James B. Field described an interesting genetic study of a family affected with limit dextrinosis. The finding of an unusual prevalence of this disease among North African Jewish immigrants in Israel 1 prompted us to investigate debrancher enzyme activity in leukocytes of affected cases
The Journal of Pediatrics September 1968
and their families. Forty-seven subjects belonging to 7 families were studied. Amylo-l,6-glucosidase activity in leukocytes assayed by the method of glucose C 1~ incorporation into glycogen proved to be of value to differentiate between normal and heterozygotes in the families studied. All parents of diseased children were clinically unaffected. Amylo-l,6-glucosidase examined in parents' leukocytes showed half normal enzyme activity. A normal sex ratio was found among affected cases. These family studies suggested an autosomal recessive mode of inheritance. All affected cases had high erythrocyte glycogen content. In contrast, the patient and family described by the author differ significantIy from the usual cases encountered, both in terms of residual activity of amylo-l,6-glucosidase found among tissue and normal erythrocyte concentrations of glycogen. The different enzyme activities found in varions tissues in heterozygotes are of major interest and raises certain questions of gene action. We feel that the author was confronted with a rather unusual family of type I I I glycogen storage disease, which confirms the present concept that more subgroups of type I I I glycogen storage disease exist than have been recognized. Nevertheless, in this family study as well as in our own study, leukocytes proved to be a readily available and representative tissue to differentiate heterozygotes with this disease from normal individuals. REUVEN
CHAYOT~I,
M.SC.
AND S. MOSES, i'vi.D. T H E NEGEV GENTRAL HOSPITAL BEER-SHEBA, ISRAEL
REFERENCE 1. Levln, S., Moses, S. W., Chayoth, R., Jagoda, N., Steinitz, K., and Levinson, G.: Glycogen storage disease in Israel, Israel M. Sc. 3: 397, 1967.
Letters to the editor
ments carried out elsewhere with fetal and newborn monkeys? These results await final evaluation, but monkeys born about y~ hour after administration of pentobarbitaI (30 mg. per kilogram) to the mother remained in a comatose condition for 24 to 48 hours. The problems of management and mortality associated with these deeply anesthetized newborn monkeys were sufficient to make us extremely cautious about recommending that a group of newborn infants have the hazards of anesthesia added to the problem of perinatal asphyxia. Dr. Goodlin2 himself, in an earlier publication, has stated, "Direct extrapolation from the laboratory to clinical situations and from rabbits to man is hardly w a r r a n t e d . . . " We continue to agree with this and can only restate that our findings alone cannot be taken as an endorsement of the use of pentobarbkal clinically to protect newborn infants from the effects of anoxia. A. 0. M. CAMPBELL, M.B., J. E. MILLIGAN~ M.D.~ AND N. S. TALNER~ M.D.
REFERENCES 1. Dawes, G. S., James, L. S., Myers, R. E., and Ross, B. B.: Personal communication. 2. Goodlin, R. C.: Drug protection for fetal anoxia, Obst. & Gynee. 26: 9, 1965.
Limit dextrinosis To the Editor: In the JOURNAL OF PEDIATRICS72: 214, i968, Christine Williams and James B. Field described an interesting genetic study of a family affected with limit dextrinosis. The finding of an unusual prevalence of this disease among North African Jewish immigrants in Israel 1 prompted us to investigate debrancher enzyme activity in leukocytes of affected cases
The Journal of Pediatrics September 1968
and their families. Forty-seven subjects belonging to 7 families were studied. Amylo-l,6-glucosidase activity in leukocytes assayed by the method of glucose C 1~ incorporation into glycogen proved to be of value to differentiate between normal and heterozygotes in the families studied. All parents of diseased children were clinically unaffected. Amylo-l,6-glucosidase examined in parents' leukocytes showed half normal enzyme activity. A normal sex ratio was found among affected cases. These family studies suggested an autosomal recessive mode of inheritance. All affected cases had high erythrocyte glycogen content. In contrast, the patient and family described by the author differ significantIy from the usual cases encountered, both in terms of residual activity of amylo-l,6-glucosidase found among tissue and normal erythrocyte concentrations of glycogen. The different enzyme activities found in varions tissues in heterozygotes are of major interest and raises certain questions of gene action. We feel that the author was confronted with a rather unusual family of type I I I glycogen storage disease, which confirms the present concept that more subgroups of type I I I glycogen storage disease exist than have been recognized. Nevertheless, in this family study as well as in our own study, leukocytes proved to be a readily available and representative tissue to differentiate heterozygotes with this disease from normal individuals. REUVEN
CHAYOT~I,
M.SC.
AND S. MOSES, i'vi.D. T H E NEGEV GENTRAL HOSPITAL BEER-SHEBA, ISRAEL
REFERENCE 1. Levln, S., Moses, S. W., Chayoth, R., Jagoda, N., Steinitz, K., and Levinson, G.: Glycogen storage disease in Israel, Israel M. Sc. 3: 397, 1967.