Crigler-Najjar Disease criglernajjar syndrome a disease caused by a single base deletion in the gene for For more information on crigler-najjar syndrome, follow these links http://www.bio.davidson.edu/courses/Molbio/MolStudents/spring2000/roberts/Pages/
Extractions: This web page was produced as an assignment for an undergraduate course at Davidson College. Crigler-Najjar Syndrome Crigler-Najjar Syndrome a disease caused by a single base deletion in the gene for a liver enzyme that metabolizes bilirubin ( ). Therefore, the body fails to break down bilirubin (a yellow pigment), which accumulates to toxic levels ( ). Therefore, the patient becomes juandiced and must spend up to 16 hours a day under blue lights to break down the pigment. Crigler-Najjar disease is fatal if untreated, and liver transplant is the only known cure ( For more information on Crigler-Najjar Syndrome, follow these links: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?218800 http://www.icondata.com/health/pedbase/files/CRIGLER-.HTM Return to "Uses of Chimeraplasty" Return to the Molecular Biology Homepage
Pharmacogenetics And Genomics - UserLogin However, criglernajjar syndrome is rarely reported in Chinese. Family studyfor the patient suffering from crigler-najjar syndrome type II. aSerum http://www.jpharmacogenetics.com/pt/re/pharmgen/fulltext.00008571-200110000-0001
Transplantation - UserLogin criglernajjar syndrome type 1 (CNS1) is an autosomal recessive genetic disorder Split liver transplantation of two brothers for crigler-najjar syndrome http://www.transplantjournal.com/pt/re/transplantation/fulltext.00007890-2002011
Indian Pediatrics - Editorial criglernajjar syndrome type-1 (CNS-I) is a potentially lethal disorder However, differentiating crigler-najjar syndrome type I from type II solely on http://www.indianpediatrics.net/dec2003/dec-1209-1210.htm
Extractions: A 6-month-old baby born to a consanguineously married couple, presented with jaundice since day 3 of life (total biluribin of 22.6 mg/dL with indirect fraction of 21.8 mg/dL) along with abnormal movements in the form of stiffening of limbs and arching of body. Review of medical records showed no features suggestive of hemolysis, liver cell failure, hypothyroid state and breast milk jaundice. Trial of phenobarbitone therapy was also found to be ineffective in bringing down bilirubin levels. Now at 6 months of age, with regular home phototherapy for the past 5 months, baby weighed 5 kg and was irritable. Develop-mental history revealed delayed attainment of milestones with social smile at 5 months and partial head control at 6 months. Examination revealed deep icterus with staining of palms and soles and signs of kernicterus. Routine blood and urine tests were normal. Serum bilirubin was 25 mg/dL (indirect fraction of 23.8 mg/dL) and other liver function tests were normal. A screening for TORCH infection was negative. A second trial of phenobarbitone therapy was also in- effective. M.L. Kulkarni
Blackwell Synergy - Cookie Absent Genetic heterogeneity of criglernajjar syndrome type I a study of 14 cases.Hum Genet 1994 94 693 -700. 7. Francoual J, Trioche P, Mokrani C et al. http://www.blackwell-synergy.com/doi/abs/10.1111/j.1399-0004.2004.00371.x
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Statesman.com criglernajjar syndrome is inherited as an autosomal recessive trait. Parents whoare carriers of this condition have about half the normal enzyme activity http://www.statesman.com/health/healthfd/shared/health/adam/ency/article/001127.
Extractions: 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). Causes and Risks Crigler-Najjar syndrome is inherited as an autosomal recessive trait. Parents who are carriers of this condition have about half the normal
Metabolic Genetic Conditions criglernajjar syndrome, cystinosis, diabetes insipidus, Fabry, Crigler NajjarSyndrome, links to resources, web page from Italy (in English) http://www.kumc.edu/gec/support/metaboli.html
Liver Condions criglernajjar syndrome. crigler-najjar syndrome, Medical Encyclopedia;Crigler-Najjar Association, Kings Way Foundation, Wichita, KS, includes Links to http://www.kumc.edu/gec/support/liver.html
Extractions: Photos Available Upon Request Comments, Suggestions? by Ruth SoRelle, MPH Brendan Lee, MD, PhD A single dose of gene-virus combination cured rats of an inherited liver disease in which lack of a gene causes the accumulation of bilirubin - which, untreated, results in jaundice and brain damage, said researchers at Baylor College of Medicine in a report in the Proceedings of the Natural Academy of Sciences. "This is the first time this disease (Crigler-Najjar syndrome) has been completely cured long term with a single injection in an adult animal," said Brendan Lee, MD, PhD, associate professor of molecular and human genetics and a Howard Hughes Medical Investigator at Baylor College of Medicine. 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. Individuals with this disorder lack an enzyme called uridine diphospho-glucuronosyl transferase 1A 1. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions.
Crigler-Najjar Disease CriglerNajjar disease. MIM.218800. crigler-najjar syndrome Crigler-Najjarsyndrome type I - crigler-najjar syndrome type II. Etiology http://www.humpath.com/article.php3?id_article=4671
Current Papers In Liver Disease - May, 1998 Treatment of the criglernajjar syndrome type I with hepatocyte transplantation.New England Journal of Medicine. 3381422-1426. crigler-najjar syndrome http://www.cumc.columbia.edu/dept/gi/may98.html
Extractions: Columbia University and Lamivudine is an inhibitor of hepatitis B virus (HBV) RNA-dependent DNA polymerase that has shown considerable promise in the treatment of patients with hepatitis B. One factor that may limit its use as a therapeutic agent is the development of resistance, which is known to occur as a result of mutations in a particular amino acid motif of tyrosine-methione-aspartate-aspartate (YMDD) in the polymerase. These two studies in Hepatology further examined the phenomenon of lamivudine resistance. The study by Allen et al. examined the genomic sequences of HBV from 20 patients who developed resistance to lamivudine. The authors showed that the 20 mutations at the YMDD motif comprise two "groups." Group I had a substitution of valine for methionine (YVDD) and group II had a substitution of isoleucine for methionine (YIDD). Group I mutants always had a second mutation that resulted of leucine for another methionine at a position upstream of the YMDD motif. The authors further showed that these mutations inhibited polymerase sensitivity to lamivudine
Sue Golding Graduate Division @ AECOM - Roy-Chowdhury, Namita results in the potentially lethal disorder, criglernajjar syndrome type I (CN-1).Incomplete loss of the enzyme activity causes crigler-najjar syndrome http://www.aecom.yu.edu/home/sggd/faculty/nroychowdhury.htm
Extractions: Inherited Disorders of Bilirubin Glucuronidation Glucuronidation is essential for hepatic excretion of bilirubin, the toxic end product of heme catabolism. Bilirubin glucuronidation is catalyzed by specific isoforms of a family of UDP-glucuronosyltransferase (UGT), particularly by one form, B-UGT1. B-UGT1 and at least three other UGT isoforms are expressed from a gene with unique organization, ugt1. Four consecutive exons at the 3' domain of the gene are used in all isoforms expressed from these genes, and encode the carboxy terminal region of the enzymes that are identical in all isoforms. Upstream to these is a series of unique exons, only one of which is used in a specific UGT isoform. Each unique region exon encodes the variable NH2 terminal domain of one UGT isoform that imparts aglycone substrate specificity to the isoform. The unique region exons are driven by independent 5' promoters and are therefore capable of independent regulation. Three grades of inherited B-UGT1 deficiency lead to three syndromes in humans, all of which are characterized by unconjugated hyperbilirubinemia. A near complete deficiency of the enzyme results in the potentially lethal disorder, Crigler-Najjar syndrome type I (CN-1). Incomplete loss of the enzyme activity causes Crigler-Najjar syndrome type II (CN-II). Milder forms of B-UGT deficiency cause the common benign disorder, Gilbert syndrome. Our laboratory is pursuing two related areas of research. One involves the correlation of molecular structure and catalytic function of B-UGT1. The second is aimed at characterization of the mechanism of regulation of ugt1 gene expression.
Opera Directory An overview of criglernajjar syndrome including symptoms, treatment and NORD Crigler Najjar Syndrome Type I. General information and further resources http://portal.opera.com/directory/?cat=521033
Extractions: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: References Osamu Koiwai* Sachiko Aono Yukihiko Adachi Toshinori Kamisako Yoshihiro Yasui Miwako Nishizawa and Hiroshi Sato Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Chikusa-ku, Nagoya Japan Department of Perinatology, Institute for Developmental Research, Aichi Prefecture Colony, Kasugai
MeSH-D Terms Associated To MeSH-C Term Crigler-Najjar Syndrome MeSHD terms associated to MeSH-C term crigler-najjar syndrome, G2D Home of the association of the corresponding term to crigler-najjar syndrome. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Crigler-Najjar_Syndrome:unknown
Crigler-Najjar Syndrome (type I CriglerNajjar); Arias syndrome (type II Crigler-Najjar) for prospective parents with a family history of crigler-najjar syndrome. http://www.healthscout.com/ency/1/001127prv.html
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Extractions: @import url(default.css); Back to Health Library Print This Page Email to a Friend Liver anatomy 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, 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 enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called being homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop
Extractions: Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Rosatelli, M. C. Articles by Cao, A. Journal of Medical Genetics, 1997, Vol 34, 122-125 MC Rosatelli, A Meloni, V Faa, L Saba, G Crisponi, MG Clemente, G Meloni, MT Piga and A Cao Instituto di Clinica e Biologia dell'Eta Evolutiva, Universita degli Studi di Cagliari, Sardinia, Italy. This study reports the molecular characterisation of the bilirubin UDP- glucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. Sequence
