
UDP Glucuronosyl Transferase 1A1 UGT1A1, Full Gene Childrensmn Form
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People also ask
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What is the disease associated with UGT1A1?
At least 85 mutations in the UGT1A1 gene that cause Crigler-Najjar syndrome have been identified. This condition occurs when both copies of the UGT1A1 gene in each cell are altered.
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What disease is UDP glucuronyl transferase?
UDP glucuronyltransferase (UDPGT) is a family of liver enzymes which conjugate drugs and endogenous compounds to the acidic sugar glucuronic acid. Diagnosis of Gilbert's syndrome, an inherited disorder characterized by mild intermittent jaundice, is by exclusion of other hepatic or haematological disorders.
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What is the disease UDP glucuronosyltransferase?
The deficiency of this enzyme (UDP-glucuronosyltransferase) results in a condition called Gilbert's disease in which there are mild elevations of bilirubin pigment in the blood. The elevated bilirubin pigment can sometimes cause mild yellowing (jaundice) of the eyes.
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What is a glucuronyl transferase deficiency disease?
Crigler-Najjar Syndrome This rare inherited liver disorder is caused by deficiency of the enzyme glucuronyl transferase (UGT1A1), which catalyzes the conjugation of bilirubin (mainly to bilirubin diglucuronide) to render bilirubin water soluble.
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What does UGT1A1 test for?
This is a full gene sequencing test for UGT1A1 that includes the TA repeat region of the promoter and all intron/exon boundaries. Results are interpreted for the purposes of UGT1A1 drug metabolism and hereditary hyperbilirubinemia syndromes (Gilbert syndrome and Crigler-Najjar syndrome).
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What is the role of UDP glucuronosyltransferase?
UDP-glucuronosyltransferases (UGTs) are phase II drug-metabolizing enzymes that metabolize endogenous fatty acids such as arachidonic acid metabolites, as well as many prescription drugs, such as opioids, antiepileptics, and antiviral drugs.
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What drugs are metabolized by UGT1A1?
Many exogenous substances, mutagenic xenobiotics and therapeutic drugs are UGT1A1 substrates. Examples of therapeutic drug substrates of UGT1A1 are: irinotecan (SN-38), acetaminophen (paracetamol), carvedilol, etoposide, lamotrigine and simvastatin [1-3].
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What is the disease associated with UGT1A1?
At least 85 mutations in the UGT1A1 gene that cause Crigler-Najjar syndrome have been identified. This condition occurs when both copies of the UGT1A1 gene in each cell are altered.
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