(GS, MIM #143500) is characterized by fluctuating mild, unconjugated hyperbilirubinemia <85 [micro]mol/L and is caused by mutations in the bilirubin uridine diphosphate (UDP)-glucuronosyltransferase gene ( UGT1A1 ).
, caused by a partial deficiency of hepatic bilirubin UDP glucuronosyl transferase (UGT1A1), leads to elevation of unconjugated bilirubin from approximately 10 to about 20-70 [micro]M, without any signs of liver damage [1, 9].
, UGT1A1*28 allele, and cardiovascular disease risk: possible protective effects and therapeutic applications of bilirubin.
In April of 1995, he had an acute myocardial infarction and was also diagnosed with hepatitis B and Gilbert syndrome
A 61 year old male with a history of coronary artery disease, hyperlipidemia, Gilbert syndrome
, and hypothyroidism had routine laboratory studies which revealed coagulation abnormalities.
In contrast, Gilbert syndrome
(OMIM 145300), a mild inherited form of unconjugated hyperbilirubinemia that occurs in 15% of the population, is usually not treated or diagnosed because there are usually no clinical symptoms (7, 8); however, Gilbert syndrome
increases the risk of drug toxicity during cancer chemotherapy with irinotecan (Camptosar[R]; Pfizer) (9-11).
Both common and rare hereditary hepatic diseases, such as hereditary hemocliromatosis, Gilbert syndrome
(benign hyperbilirubinemia), Wilson's disease (a copper metabolism abnormality), and [alpha]1 - antitrypsin deficiency syndrome may be found in families.
We discuss the example of Gilbert syndrome
to illustrate the partitioning decision process.
Both common and rare hereditary hepatic diseases, such as hereditary hemochromatosis, Gilbert syndrome
(benign hyperbilirubinemia), Wilson's disease (a copper metabolism abnormality), and [alpha] l-antitrypsin deficiency syndrome may be found in families.
9), who found significantly lower concentrations of soluble forms of CD40 ligand and P-selectin in subjects with Gilbert syndrome
7]TAA (allele *28, reduced transcription) and G71R (211G>A, allele *6, reduced activity), are causative factors for increased plasma bilirubin concentrations in Gilbert syndrome
is an inborn error of bilirubin conjugation caused by mutations in the conjugating enzyme uridine diphosphate glucuronyltransferase (UGT1A1) (1).