Gilberts syndrome

Maruo Y, Sato H, Yamano T et al. Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene. 

Evidence of increased serum total bilirubin (>2x ULN) with no evidence of intra- or extra-hepatic bilirubin obstruction (elevated serum ALP) or Gilberts syndrome. 

PBREM, phenobarbital-responsive enhaneer module Gilbert, Gilbert syndrome CN2, Crigler-Najjar syndrome type II. 

A decreased TAC of blood plasma and of hemolyzates was reported in alcoholic liver disease (H2). Decreased TAC was observed in acute pancreatitis (W10). TAC of blood plasma is increased in patients with Gilbert syndrome due to high bilirubin levels (bilirubin is a good antioxidant) (VI6). However, it does not seem that this increased bilirubin level (and enhanced TAC) can protect against coronary heart disease, as suggested by some authors (V19). Blood plasma TAC was considerably lowered in patients with Crohn s disease [1.11 0.28 vs. 1.34 0.26 mM (G4)]. 

V16. Vijtek, L., Jirsa, M., Brodanova, M., Kalab, M., Marecvek, Z., Danzig, V., Novotny, L., and Kotal, P., Gilbert syndrome and ischemic heart disease A protective effect of elevated bilirubin levels. Atherosclerosis 160, 449-456 (2002). 

Rotger M, Taffe P, Bleiber G, et al. Gilbert syndrome and the development of antiretroviral therapy-associated hyperbilirubinemia. J Infect Dis 2005 192(8) 1381-1386. 

A number of genetic diseases are associated with defects in one or more of the enzymes involved in the metabolism of bilirubin. Three of these diseases result in elevated levels of unconjugated bilirubin, and two of these result in elevated levels of conjugated bilirubin. All three of the diseases that produce elevated levels of unconjugated bilirubin are related to defects in the level of expression or in the inherent activity of bilirubin-UDP-glucuronyltransferase (also called UGT1 Al).The mildest and most common of these disease is Gilbert syndrome, which is present in about 10% of the Caucasian population. 

Deficiency of UGT leads to ineffective esterification of bihrubin, which in turn results in an unconjugated hyperbUirubinaemia. Reduced bilirubin conjugation, as a result of a decreased or absent UGT activity, is found in a number of acquired conditions and inherited diseases, such as Crigler-Najjar syndrome (types I and II) and Gilbert syndrome. Bilirubin-conjugating activity is also very low in the neonatal liver. 

Gilbert syndrome is a benign condition manifested by mild unconjugated hyperbilirubinemia. This abnormality, affecting 3% to 5% of the population, is clinically important, because it is often misdiagnosed as chronic hepatitis. The serum concentration of bihrubin fluctuates between 1.5 and 3mg/dL (26 and 51 Limol/L) and tends to increase with... 

J. D. Bancroft, B. Kreamer, and G. R. Gourlev Gilbert. syndrome accelerates development of neonatal jaundice. Journal of Pediatrics 132, 656 (1998). 

Jaundice of newborn Jaundice of prematurity Gilbert syndrome Crigler-Najjar syndrome... 

Hyperbilirubinaemia, glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome. 

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