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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]
Serological abnormalities in Rotor syndrome only include elevated total serum bilirubin (typically elevated between 2 and 5 mg/dL but may be as high as 20 mg/dL). [2] Most of the time, alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, and alkaline phosphatase levels are normal, but mild elevations can be seen. [2]
Kernicterus is a bilirubin-induced brain dysfunction. [1] The term was coined in 1904 by Christian Georg Schmorl.Bilirubin is a naturally occurring substance in the body of humans and many other animals, but it is neurotoxic when its concentration in the blood is too high, a condition known as hyperbilirubinemia.
People with GS predominantly have elevated unconjugated bilirubin, while conjugated bilirubin is usually within the normal range or is less than 20% of the total. Levels of bilirubin in GS patients are reported to be from 20 μM to 90 μM (1.2 to 5.3 mg/dl) [38] compared to the normal amount of < 20 μM. GS patients have a ratio of unconjugated ...
Intrahepatic causes can be associated with elevated levels of conjugated bilirubin, unconjugated bilirubin or both. [21] They include: [21] Neonatal hyperbilirubinemia, where the newborn's liver is not able to properly process the bilirubin causing jaundice; Hepatocellular disease Viral infections (hepatitis A, B, and C) Chronic alcohol use
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. [3] [6] Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. [7]
This condition causes elevated blood sugar levels, leading to increased thirst (polydipsia) and frequent urination (polyuria). The body tries to eliminate excess sugar through urine, resulting in ...
This causes a primarily conjugated hyperbilirubinemia and jaundice; the liver conjugates the bile to make it water-soluble and because the bile has already been processed by the liver, when it gets backed up because of a blockage and is refluxed into the blood, the blood will have high levels of conjugated bilirubin.