Unconjugated Hyperbilirubinemia
(Gilbert-Meulengracht's Disease, Crigler-Najjar's Disease)
Jaundice is one of the most striking
symptoms of liver diseases. An important step in bilirubin metabolism is
conjugation with glucuronic acid, which is exclusively catalyzed by the UDP
glucuronosyltransferase UGT1A1. Genetically determined alterations of this
enzyme can lead to a reduction of bilirubin conjugation resulting in diminished
bilirubin elimination from the body. Water insoluble bilirubin has no
alternative pathway of elimination from the body. The complete absence of
bilirubin conjugation, i.e. the absence of UGT1A1 activity, is fatal.
A focus of our work is the determination of
genetic polymorphisms of the UGT1A1 promoter, which are present in patients
with Gilbert's disease (UGT1A1*28). In addition, we are analyzing the UGT1A1
gene in patients with unconjugated hyperbilirubinemia, which are
characteristic of Crigler-Najjars's disease.
If you have questions regarding unconjugated
hyperbilirubinemia, prolonged jaundice in neonates and children as well as
recurrent jaundice please feel free to contact us via email or:
PD
Dr. C. P. Strassburg
0511-532
2853 oder via pager: 0511-532-0 (Pforte) pager no. 3175
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