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Hyperbilirubinemia is a clinical condition describing an elevation of blood bilirubin level due to the inability to properly metabolise or excrete bilirubin, a product of erythrocytes breakdown. In severe cases, it is manifested as jaundice , the yellowing of tissues like skin and the sclera when excess bilirubin deposits in them. [ 1 ]
Hereditary hyperbilirubinemia refers to a group of conditions where levels of bilirubin, a byproduct of red blood cell metabolism, are elevated in the blood due to a genetic cause. [1] Various mutations of enzymes in the liver cells, which breakdown bilirubin, cause varying elevated levels of bilirubin in the blood. [ 2 ]
Unconjugated bilirubin is a breakdown product of heme (a part of hemoglobin in red blood cells). The liver is responsible for clearing the blood of unconjugated bilirubin, by 'conjugating' it (modified to make it water-soluble) through an enzyme named UDP-glucuronyl-transferase. When the total bilirubin level exceeds 17 μmol/L, it indicates ...
conjugated bilirubin is excreted in bile, not via the kidneys. excretion via the kidneys (bilirubinuria] occurs in hyperbilirubinaemia which is high levels of conjugated bilirubin - a condition that will not occur in Gilbert's syndrome since conjugation is deficient. - 89.100.205.6 21:44, 28 November 2007 (UTC)bren
Because bilirubin is a skin irritant, jaundice is commonly associated with severe itchiness. [16] [17] Eye conjunctiva has a particularly high affinity for bilirubin deposition due to high elastin content. Slight increases in serum bilirubin can, therefore, be detected early on by observing the yellowing of sclerae.
Bilirubin is not normally detectable in the urine of healthy people. If the blood level of conjugated bilirubin becomes elevated, e.g. due to liver disease, excess conjugated bilirubin is excreted in the urine, indicating a pathological process. [61] Unconjugated bilirubin is not water-soluble and so is not excreted in the urine.
Rotor syndrome (also known as Rotor type hyperbilirubinemia) [2] is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive [3] bilirubin disorder characterized by non-hemolytic jaundice due to the chronic elevation of predominantly conjugated bilirubin.
The bilirubin-UGT enzyme performs a chemical reaction called glucuronidation. Glucuronic acid is transferred to unconjugated bilirubin, which is a yellowish pigment made when your body breaks down old red blood cells, [35] and then being converted to conjugated bilirubin during the reaction. Conjugated bilirubin passes from the liver into the ...