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  1. Crigler-Najjar Syndrome

41. NEJM -- Treatment Of The Crigler-Najjar Syndrome Type I With Hepatocyte Transpla
PreviousPrevious, Volume 33814221427, May 14, 1998, Number 20. Next Next. Treatment of the Crigler–Najjar Syndrome Type I with Hepatocyte Transplantation.
http://content.nejm.org/cgi/content/short/338/20/1422
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Ira J. Fox, M.D., Jayanta Roy Chowdhury, M.D., Stuart S. Kaufman, M.D., Timothy C. Goertzen, M.D., Namita Roy Chowdhury, Ph.D., Phyllis I. Warkentin, M.D., Kenneth Dorko, B.S., Bernhard V. Sauter, M.D., and Stephen C. Strom, Ph.D. Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.
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disorder characterized by severe unconjugated hyperbilirubinemia beginning at birth. The syndrome results from an absence of hepatic uridine diphosphoglucuronate (UDP) glucuronosyltransferase activity, which is essential for the conjugation and excretion of bilirubin. Because of the accumulation of unconjugated bilirubin in plasma, patients are at risk for kernicterus. Although phototherapy successfully reduces serum bilirubin levels, patients are again at risk for kernicterus around the time of puberty, when phototherapy

42. NEJM -- Sign In
Treatment of the Crigler–Najjar Syndrome Type I with Hepatocyte Transplantation. Orthotopic liver transplantation for type I criglernajjar syndrome.
http://content.nejm.org/cgi/content/full/338/20/1422

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43. Crigler Najjar Syndrome Type I,Bilirubin Glucuronosyltransferase Deficiency Type
criglernajjar syndrome Type I is inherited as an autosomal recessive genetic trait. The 94 crigler-najjar syndrome - I. DEFINITION
http://www.icomm.ca/geneinfo/crignaj.htm
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DISORDERS GLOSSARY Crigler Najjar Syndrome
also known as:
Bilirubin Glucuronosyltransferase Deficiency Type I
Uridine Diphosphate Glucuronosyltransferase, Severe Def. Type I
Congenital Familial Nonhemolytic Jaundice Type I
Arias Syndrome (Type II Crigler-Najjar)
Glucuronyl Transferase Deficiency (Type I Crigler-Najjar) (as defined at
http://www.medhelp.org/glossary/new/GLS_1354.HTM
A rare genetic defect (autosomal recessive) where there is the inability to form bilirubin glucuronide due to the absence of the enzyme bilirubin-glucuronoside glucuronosyltransferase; finding include jaundice, and irreversible brain damage in the severe form. Return to Contents (as defined by the National Organization for Rare Disorders Crigler-Najjar Syndrome Type I is a very rare inherited metabolic disorder characterized by the complete absence of the enzyme uridine diphosphate glucuronosyltransferase (UDPGT), which is normally found in the liver. This enzyme is required for the conversion (conjugation) and subsequent excretion of bilirubin from the body.

44. Liver Syndrome Crigler-Najjar Syndrome
Liver Disorders. Transplant Services Website. criglernajjar syndrome. crigler-najjar syndrome Types 1 and 2 are genetic disorders of bilirubin metabolism.
http://www.fairviewtransplant.org/liver/crigler.asp

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The Transplant Center is a partnership of the following entities: Our liver transplant program is one of the world's oldest Liver Disorders Transplant Services Website Crigler-Najjar Syndrome Crigler-Najjar Syndrome Types 1 and 2 are genetic disorders of bilirubin metabolism. Found in bile, bilirubin supports fat breakdown and helps to prepare it for absorption. The body produces roughly 250 mg of water-insoluable unconjugated bilirubin daily. It travels to the liver, where it becomes water-soluble conjugated bilirubin and is excreted into the bile. In Type 1 Crigler-Najjar syndrome, unconjugated bilirubin does not convert in the liver, resulting in a concentration of serum bilirubin. Type 1 usually develops in the first three days of life and is marked by pale stools. Left untreated, toxic concentrations (Kernicterus) can build in the first month. Phototherapy, exchange infusions and limiting bilirubin production are among treatment options. Liver transplant is successful in a small number of patients. Type 2 is a less severe disorder, generally presenting in neonates. Bilirubin concentrations may be elevated to and after three weeks of life, and is marked by jaundice and normal stool color. In the bile, bilirubin levels are almost normal. Medication to reduce serum bilirubin levels is effective. For Further Information Request Transplant Information Video/Kit

45. ThirdAge - Adam - Crigler-Najjar Syndrome
criglernajjar syndrome. Definition Glucuronyl transferase deficiency (type I); Arias syndrome (type II Crigler-Najjar). Causes, incidence, and risk factors
http://www.thirdage.com/adam/ency/article/001127.htm
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Crigler-Najjar syndrome
Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions.
Alternative Names: Glucuronyl transferase deficiency (type I); Arias syndrome (type II Crigler-Najjar)
Causes, incidence, and risk factors: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the normal enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop

46. Crigler-Najjar Syndrome
criglernajjar syndrome. Alternative Names Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
http://lebonheur.adam.com/pages/content.asp?genId=001127&proj=1&lang=en

47. Pediatrics: Crigler-Najjar Syndrome, 1952-2000: Learning From Parents And Patien
deals criglernajjar syndrome, 1952-2000 Learning From Parents and Patients About a Very Rare Disease and Using the Internet to Recruit Patients for Studies
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May, 2000 by Jerold F. Lucey Gautham K. Suresh Attallah Kappas
ABBREVIATION. SnMP, Sn-mesoporphyrin. The Crigler-Najjar syndrome was first described in this journal in 1952.[1] The majority of patients died with kernicterus during the neonatal period. In 1958, the use of phototherapy to treat neonatal jaundice was first reported in England.[2] This therapy was not adopted in the United States until 1968 when the first randomized controlled trial to prevent neonatal jaundice was reported, also in this journal[3] Little attention was paid to the first reports that phototherapy could be used to modify neonatal hyperbilirubinemia in Crigler-Najjar patients[4,5] Over the next 20 years, it became apparent that this is an effective, if inconvenient, therapy. An increasing number of Crigler-Najjar patients now survive into adolescence. The syndrome can be "cured" by hepatic transplants first conducted in 1986.[6] The enzymatic defect in the liver was identified in 1957[7] and the locus of the missing gene in 1992.[8] Advancements have been slow but steady over the past 45 years.

48. Health Topics
criglernajjar syndrome. Definition Alternative Names Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar).
http://www.netwellness.org/ency/article/001127.htm
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Crigler-Najjar syndrome
Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions.
Alternative Names: Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar)
Causes, incidence, and risk factors: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the normal enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop

49. Dictionary Definition Of CRIGLER-NAJJAR SYNDROME
Dictionary definition of criglernajjar syndrome. Medical dictionary. Browse Dictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A B C D E
http://www.dictionarybarn.com/CRIGLERNAJJAR-SYNDROME.php

50. Health - Conditions And Diseases - Genetic Disorders - Crigler
Web Design Info, Web Hosting Info, Software Info, Search Engine Info. Search Top Health Conditions and Diseases Genetic Disorders criglernajjar syndrome
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51. Medicdirect - Comprehensive UK Health Information
criglernajjar syndrome Definition. crigler-najjar syndrome is caused by a disorder in the metabolism of bilirubin, the chemical that causes jaundice.
http://www.medicdirect.co.uk/clinics/default.ihtml?step=4&pid=2032

52. Search Health Information
Back to Search criglernajjar syndrome (Disease). Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
http://www.ihsdesmoines.org/body.cfm?id=692&action=detail&AEProductID=AdamEncy&A

53. Home
Our Site Last Updated June 29, 2003. criglernajjar syndrome is caused by a liver enzyme deficiency. crigler-najjar syndrome (CNS) is
http://www.criglernajjar.com/
Our Site Last Updated June 29, 2003
Crigler-Najjar Syndrome is caused by a liver enzyme deficiency
Crigler-Najjar Syndrome (CNS) is an inherited metabolic disorder caused by a liver enzyme deficiency which prevents the usual metabolic breakdown of bilirubin; a normal by-product in our body’s disposal of worn-out red blood cells. Children with CNS are unable to eliminate bilirubin from their bodies and therefore must undergo daily 12-hour exposure to special blue lights, just to survive. Without daily treatments, a child would suffer brain damage, muscle and nerve damage and death due to bilirubin toxicity.
A Rare Orphan Disease
Crigler-Najjar is a very rare disease. There are less than 50 known cases in the USA, and less than 200 worldwide. It is named after Dr. Crigler and Dr. Najjar who discovered the disease. Dr. John F. Crigler is a Special Medical Two-year-old Melanie has to sleep under intense blue lights to help combat the disease Crigler-Najjar Syndrome Advisor to the CNA.
The Crigler-Najjar Association
Providing Support and Helping Others
Our group represents approximately 30 families in the U.S.A. who have family members affected by Crigler-Najjar syndrome. Started in 2002 with a handful of Crigler-Najjar families, our group has grown and expanded to represent all families who are interested in providing support, information and helping others who are less fortunate that may not have the ability to pay for expensive phototherapy lights and medications required just to live.

54. Crigler-Najjar Syndrome : Meddie Health Search
More search options. Home Conditions and Diseases Genetic Disorders criglernajjar syndrome. ITEMS LINKS Davidson College
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55. Alexa Web Search - Subjects > Health > Conditions And Diseases > Genetic Disorde
it.geocities.com/criglernajjar Site Info. Austin Health Information An overview of crigler-najjar syndrome including symptoms, treatment and prevention.
http://www.alexa.com/browse/general?catid=521033&mode=general

56. PharmGKB: Crigler-Najjar Syndrome
criglernajjar syndrome. Alternate Names Crigler Najar Syndrome; Crigler Najjar Syndrome; Crigler-Najar Syndrome; Syndrome, Crigler
http://www.pharmgkb.org/do/serve?objId=PA443813&objCls=Disease

57. Health Encyclopedia
criglernajjar syndrome Prevention. Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
http://healthcontent.baptistnortheast.com/adamcontent/ency/article/001127.asp
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Crigler-Najjar syndrome
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Alternate Names
Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar)
Definition
Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions.
Causes and Risk
Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the normal enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop

58. Welcome To AJC!
home Disease C criglernajjar syndrome. crigler-najjar syndrome. Causes and Risks. crigler-najjar syndrome is inherited as an autosomal recessive trait.
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ajc store Gifts Photos/pages Browser tip  Make ajc.com  your homepage: ajc guides Schools Visitors Illustrated Health Encyclopedia Important notice Ency. home Disease C Crigler-Najjar syndrome Overview Symptoms Treatment Prevention Alternative names: Glucuronyl transferase deficiency (type I); Arias syndrome (type II Crigler-Najjar) Definition: Crigler-Najjar syndrome is an inherited disorder of bilirubin metabolism in which bilirubin cannot be changed into its water-soluble form, bilirubin glucuronide. This is caused by abnormal genes which fail to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result of the defect, bilirubin can build up in the body causing organs to not work properly and jaundice (a yellow discoloration of the skin and eyes because bilirubin is yellow colored).

59. Health Information
Back to Search. criglernajjar syndrome (Disease). Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
http://www.allenhospital.org/body.cfm?id=57&action=detail&AEProductID=AdamEncy&A

60. UGT1A1
Reference. CM961403, 15, CTGCGG, Leu-Arg, crigler-najjar syndrome 2, 1. CM002646, 39, cCAC-GAC, His-Asp, crigler-najjar syndrome 1, 2. CM981989,
http://archive.uwcm.ac.uk/uwcm/mg/ns/1/120007.html
Nucleotide substitutions (missense / nonsense) Accession
Number Codon Nucleotide Amino acid Phenotype Reference
CTG-CGG Leu-Arg Crigler-Najjar syndrome 2 cCAC-GAC His-Asp Crigler-Najjar syndrome 1 gCAG-TAG Gln-Term Crigler-Najjar syndrome 1 cGGA-AGA Gly-Arg Crigler-Najjar syndrome 1 TACa-TAA Tyr-Term Crigler-Najjar syndrome 1 aTTC-CTC Phe-Leu Gilbert syndrome CTG-CAG Leu-Gln Crigler-Najjar syndrome 2 aTGC-CGC Cys-Arg Crigler-Najjar syndrome 1 gCGG-TGG Arg-Trp Crigler-Najjar syndrome 2 GTG-GGG Val-Gly Crigler-Najjar syndrome 2 CCG-CAG Pro-Gln Gilbert syndrome cAAC-TAC Asn-Tyr Crigler-Najjar syndrome 1 TGCc-TGA Cys-Term Crigler-Najjar syndrome 1 GCC-GTC Ala-Val Crigler-Najjar syndrome 1 ATT-ACT Ile-Thr Crigler-Najjar syndrome 2 GGA-GAA Gly-Glu Crigler-Najjar syndrome 1 CAG-CGG Gln-Arg Crigler-Najjar syndrome 1 tCAG-TAG Gln-Term Crigler-Najjar syndrome 1 TGGc-TGA Trp-Term Crigler-Najjar syndrome 1 gCGG-TGG Arg-Trp Crigler-Najjar syndrome 1 cCGA-TGA Arg-Term Crigler-Najjar syndrome 1 CAA-CGA Gln-Arg Crigler-Najjar syndrome 1 cCAA-TAA Gln-Term Crigler-Najjar syndrome 1 cCGT-GGT Arg-Gly Gilbert syndrome tGCC-ACC Ala-Thr Crigler-Najjar syndrome 1 TCC-TTC Ser-Phe Crigler-Najjar syndrome 1 CAT-CGT His-Arg Crigler-Najjar syndrome 2 GGT-GTT Gly-Val Crigler-Najjar syndrome 2 AGCa-AGG Ser-Arg Crigler-Najjar syndrome 1 cAAT-GAT Asn-Asp Crigler-Najjar syndrome 2 tGCA-CCA Ala-Pro Crigler-Najjar syndrome 1 aAAA-GAA Lys-Glu Crigler-Najjar syndrome 1 cAAG-TAG Lys-Term Crigler-Najjar syndrome 1 GAG-GCG

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