Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Hyperbilirubinemia, Hereditary Terms and Definitions
Hyperbilirubinemia, Hereditary
Medical Definition: | Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood. |
Guide Notes: | do not use /congen & do not coord with INFANT, NEWBORN, DISEASES |
Also Called: | Rotor Syndrome |
Crigler-Najjar Syndrome - A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation. | |
Gilbert Disease - A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level. |
Hyperbilirubinemia, Hereditary Medical Definitions and Terms
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