PEDIATRICS Vol. 23 No. 5 May 1959, pp. 903-913
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GLUCURONIC ACID CONJUGATION BY PATIENTS WITH FAMILIAL NONHEMOLYTIC JAUNDICE AND THEIR RELATIVES

Barton Childs M.D.1, James B. Sidbury M.D.1, and Claude J. Migeon M.D.1

1 Department of Pediatrics, Johns Hopkins University School of Medicine, and the Harriet Lane Home, Johns Hopkins Hospital, Baltimore

Observations have been made on the capability of two patients with familial nonhemolytic jaundice and the relatives of these and other such patients to make glucuronic acid conjugates of several substances.

Studies of the physiologic disposition of 4-C14-cortisol and of tetrahydrocortisone in one patient demonstrated a partial deficiency in the conjugation of the reduced steroids with glucuronic acid.

One patient showed a like deficiency when treated with trichloroethanol. One parent of this patient showed a milder deficiency in conjugation of the same substance; the value for the other parent was below the range for controls.

Tests using sodium salicylate were carried out with both patients, their parents, three shared grandparents, and four sibs, as well as with both parents of a third patient, and both parents and several sibs of three other patients. Again, the patients showed marked impairment in glucuronide conjugation, while all but one parent, two of the grandparents, and several of the sibs showed an impairment intermediate between that of the patients and the normal values given by the controls.

Both patients and many of the relatives showed a better capability to make acyl glucuronide than the phenolic type.

The gene responsible for this disease is recessive with respect to jaundice, but shows incomplete dominance with respect to glucuronide conjugation of the test substances.

Submitted on September 13, 1958
Accepted on November 28, 1958




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