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Neonatal cholestasis refers to elevated levels of conjugated bilirubin identified in newborn infants within the first few months of life. [1] Conjugated hyperbilirubinemia is clinically defined as >20% of total serum bilirubin or conjugated bilirubin concentration greater than 1.0 mg/dL regardless of total serum bilirubin concentration. [2]
Lucey–Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. [1] It is one of several disorders classified as a transient familial neonatal unconjugated hyperbilirubinemia .
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]
[5] [6] Quick and accurate treatment of neonatal jaundice helps to reduce the risk of neonates developing kernicterus. [7] Infants with kernicterus may have a fever [8] or seizures. [9] High pitched crying is an effect of kernicterus. [citation needed] Exchange transfusions performed to lower high bilirubin levels are an aggressive treatment. [10]
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.
Crigler–Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of nonhemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants.
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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 ...