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January 1961, Vol 101, No. 1 >
Article | January 1961

Galactosemia A Family Study FREE

JOSEPH R. CHRISTIAN, M.D.; EUGENE F. DIAMOND, M.D.
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Submitted for publication April 19, 1960.


Am J Dis Child. 1961;101(1):75-77. doi:10.1001/archpedi.1961.04020020077012.
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Galactosemia is an inborn error of carbohydrate metabolism which results from the recessive inheritance of an enzymatic deficit in the metabolism of galactose. The disease is treatable and preventable by the elimination of all sources of galactose from the diet, particularly milk and milk products. The severity of the pathological manifestations of galactosemia are directly related to the amount of galactose fed and the duration of the feedings. For this reason, the early recognition of this disease is necessary to avoid the extensive tissue injury involving the liver, brain, ocular lens, and kidneys and to reduce the mortality.

The purpose of this communication is to report a case of galactosemia along with a family study based on the assay of P-gal-transferase activity in the erythrocytes of the patient, his parents, and his siblings.

Report of a Case  The patient was born on July 6, 1959, and was first admitted to

REFERENCES

1 +
Holzel, A.; Komrower, G. M., and Schwarz, V.:  Galactosemia , Am. J. Med. 22:703, 1957;.
2 +
Rapaport, M.:  Galactosemia , in Nelson, W. E., Editor: Textbook of Pediatrics , Edition 7, Philadelphia, W. B. Saunders Company, 1959;, pp. 274-276.
3 +
Isselbacher, K. J.:  Evidence for an Accessory Pathway of Galactose Metabolism in Mammalian Liver , Science 126:652, 1957;.
4 +
Hsia, D. Y. Y.:  The Laboratory Detection of Heterozygotes , Am. J. Human Genet. 9:98, 1957;.
5 +
Hsia, D. Y. Y.; Gawronska, E., and Driscoll, S.: The Detection of Heterozygous Carriers in Hereditary Diseases, in Proceedings of the 10th World Congress of Genetics, Montreal, 1958.
6 +
Hsia, D. Y. Y., et al.: The Detection of Heterozygotes in Hereditary Diseases , Exhibit, American Academy of Pediatrics, Chicago, 1958;.
7 +
Schwarz, V.; Holzel, A., and Komrower, G. M.:  Laboratory Diagnosis of Galactosemia at Birth , Lancet 1:24, 1958;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

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References

1 +
Holzel, A.; Komrower, G. M., and Schwarz, V.:  Galactosemia , Am. J. Med. 22:703, 1957;.
2 +
Rapaport, M.:  Galactosemia , in Nelson, W. E., Editor: Textbook of Pediatrics , Edition 7, Philadelphia, W. B. Saunders Company, 1959;, pp. 274-276.
3 +
Isselbacher, K. J.:  Evidence for an Accessory Pathway of Galactose Metabolism in Mammalian Liver , Science 126:652, 1957;.
4 +
Hsia, D. Y. Y.:  The Laboratory Detection of Heterozygotes , Am. J. Human Genet. 9:98, 1957;.
5 +
Hsia, D. Y. Y.; Gawronska, E., and Driscoll, S.: The Detection of Heterozygous Carriers in Hereditary Diseases, in Proceedings of the 10th World Congress of Genetics, Montreal, 1958.
6 +
Hsia, D. Y. Y., et al.: The Detection of Heterozygotes in Hereditary Diseases , Exhibit, American Academy of Pediatrics, Chicago, 1958;.
7 +
Schwarz, V.; Holzel, A., and Komrower, G. M.:  Laboratory Diagnosis of Galactosemia at Birth , Lancet 1:24, 1958;.

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