What are the common inborn errors of bilirubin metabolism?
What are the common inborn errors of bilirubin metabolism?
Research of Inborn Error Of Bilirubin Metabolism has been linked to Cholestasis, Jaundice, Chronic Idiopathic, Gilbert Disease (disorder), Kernicterus, Neonatal Jaundice.
What causes bilirubin metabolism?
Other causes of elevated bilirubin include Gilbert’s syndrome, increased production (e.g., hemolysis, ineffective erythropoiesis, hematoma resorption), and inherited disorders of bilirubin transport.
Can metabolic disorders cause jaundice?
Hereditary or inborn metabolic disorders may cause unconjugated or conjugated hyperbilirubinemia (see Overview of bilirubin metabolism). (See also Liver Structure and Function and Evaluation of the Patient with a Liver Disorder.)
What is Rotor’s syndrome?
Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down.
What does kernicterus mean?
Kernicterus is a type of brain damage that can result from high levels of bilirubin in a baby’s blood. It can cause athetoid cerebral palsy and hearing loss. Kernicterus also causes problems with vision and teeth and sometimes can cause intellectual disabilities.
How does the body get rid of excess bilirubin?
Bilirubin is a yellow substance that’s made when the body breaks down old red blood cells. It leaves the body through urine and stool. When you’re pregnant, your body removes bilirubin from your baby through the placenta.
Can stress cause high bilirubin?
Bilirubin levels may increase with stress, strain, dehydration, fasting, infection or exposure to cold. In many individuals, jaundice is only evident when one of these triggers raises the bilirubin levels.
What are the symptoms of high bilirubin?
What are the symptoms of high bilirubin?
- abdominal pain or swelling.
- chills.
- fever.
- chest pain.
- weakness.
- lightheadedness.
- fatigue.
- nausea.
What causes Dubin-Johnson?
Dubin-Johnson syndrome is caused by changes in a gene known as ABCC2. The ABCC2 gene provides instructions for making a protein that transports certain substances out of cells so they can be released (excreted) from the body.
How can you tell the difference between Gilbert syndrome and Crigler-Najjar?
In the case of Gilbert syndrome two bases are inserted into the promoter of the gene. In Crigler-Najjar syndrome type I and II mutations lead to the exchange of amino acids, changes of the reading frame or to stop codons.
