A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene.
Gilbert syndrome was diagnosed in a girl with anorexia nervosa and unconjugated hyperbilirubinaemia. Since the patient was starved and hyperbilirubinaemic, the loading test was not used for the diagnosis but analysis of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1) instead. The patient was homozygous for a missense mutation that replaced guanine with adenine at nucleotide number 211 (211G-->A: G71R). The unconjugated hyperbilirubinaemia was apparently induced by the fasting state. Homozygous missense mutations of the gene have been generally recognized as responsible for Crigler-Najjar syndrome type II; the results obtained here, however, confirm that Gilbert syndrome may also be caused by a homozygous missense mutation of UGT1A1.


CONCLUSIONS
Since anorexia nervosa patients are in a fasting state, they may show moderate unconjugated hyperbilirubinaemia if they have Gilbert syndrome. Gene analysis of such cases will rule out hepatic damage. Homozygous missense mutations of the bilirubin-UDP-glucuronosyltransferase gene cause not only Crigler-Najjar syndrome type II but also Gilbert syndrome.
Department of Pediatrics, Shiga University of Medical Science, Otsu, Japan. maruo@bellebsd.shiga-med.ac.jp
Y
Y
Maruo
S
S
Wada
K
K
Yamamoto
H
H
Sato
T
T
Yamano
M
M
Shimada
D000856:Anorexia Nervosa / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D001663:Bilirubin / Q000378:metabolism; D002648:Child; D005260:Female; D005878:Gilbert Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000032:analysis / Q000235:genetics*; D006801:Humans; D012680:Sensitivity and Specificity
D014453:Glucuronosyltransferase; D001663:Bilirubin