MedlinePlus Medical Encyclopedia: Crigler-Najjar Syndrome criglernajjar syndrome. Prevention Return to top. Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome. http://www.nlm.nih.gov/medlineplus/ency/article/001127.htm
Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Liver anatomy Alternative names Return to top Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar) Definition Return to top 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 Return to top 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.
EMedicine - Crigler-Najjar Syndrome : Article By Alessio Pigazzi, MD, PhD criglernajjar syndrome - crigler-najjar syndrome (CNS) is a rare disorder of bilirubin metabolism and has 2 distinct forms type 1 and type 2. Type 1 CNS is associated with neonatal jaundice and http://www.emedicine.com/med/topic476.htm
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Gastroenterology Last Updated: August 26, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: CNS, Crigler-Najjar disease, Gilbert syndrome, Arias syndrome, congenital nonhemolytic jaundice, neonatal jaundice, inherited unconjugated hyperbilirubinemias, uridine diphosphate glycosyltransferase, UGT, kernicterus, bilirubin encephalopathy, plasma exchange transfusion AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Alessio Pigazzi, MD, PhD , Staff Physician, Department of General Surgery, New York Presbyterian Hospital Coauthor(s): Stefano Ravalli, MD , Assistant Professor, Department of Medicine, Division of Cardiology, Columbia University College of Physicians and Surgeons Editor(s): Tushar Patel, MD
CRIGLER-NAJJAR SYNDROME Welcome to . Advertisement. criglernajjar syndrome - crigler-najjar syndrome - A rare genetic defect (autosomal recessive) where there is the inability to form bilirubin http://www.medhelp.org/glossary/new/GLS_1354.HTM
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: CNS, Crigler-Najjar disease, Gilbert syndrome, Arias syndrome, congenital nonhemolytic jaundice, neonatal jaundice, inherited unconjugated hyperbilirubinemias, uridine diphosphate glycosyltransferase, UGT, kernicterus, bilirubin encephalopathy, plasma exchange transfusion Background: Crigler-Najjar syndrome (CNS) is a rare disorder of bilirubin metabolism and has 2 distinct forms: type 1 and type 2. Type 1 CNS is associated with neonatal jaundice and neurologic manifestations, whereas type 2 CNS (also called Arias syndrome) manifests as a lower serum bilirubin level. Affected individuals may survive to adulthood without any neurological impairment. The differential diagnosis of hyperbilirubinemia can be divided into 3 broad groups: (1) disorders of excessive bilirubin production (eg, hemolysis, ineffective erythropoiesis), (2) impaired hepatic handling of bilirubin (eg, hepatitis, cirrhosis, inherited syndromes), and (3) defective bile outflow (eg, intrahepatic or extrahepatic biliary obstruction). A markedly elevated unconjugated (indirect) hyperbilirubinemia is observed in inherited disorders such as Gilbert syndrome and CNS. Among the inherited unconjugated hyperbilirubinemias, Gilbert syndrome is believed to affect approximately 3-7% of the adult population. CNS is a much rarer disorder, with only a few hundred cases described in the literature.
► Crigler-Najjar Syndrome A medical encycopedia article on the topic crigler-najjar syndrome crigler-najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be crigler-najjar syndrome is caused by an abnormal gene which fails to http://www.umm.edu/ency/article/001127.htm
Extractions: Toggle English Spanish Overview Symptoms Treatment Prevention 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 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
Crigler Najjar Syndrome Type I criglernajjar syndrome type I is a very rare inherited metabolic disorder characterized by the life, most infants with crigler-najjar syndrome type I develop persistent yellowing http://www.bchealthguide.org/kbase/nord/nord1084.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: 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. When UDP-glucuronosyltransferase activity is absent, these metabolic processes are hampered and abnormally high levels of bilirubin accumulate in the blood (hyperbilirubinemia). Within the first few days of life, most infants with Crigler-Najjar syndrome type I develop persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). In addition, some affected individuals may develop kernicterus, a potentially life-threatening neurological condition in which toxic levels of bilirubin accumulate in the brain, causing damage to the central nervous system. Early signs of kernicterus may include lack of energy (lethargy), vomiting, fever, and/or unsatisfactory feedings. More serious signs of kernicterus may develop, including abnormal muscle rigidity, resulting in muscle spasms (dystonia) and involuntary movements of the limbs and/or entire body (athetosis). Crigler-Najjar syndrome type I is inherited as an autosomal recessive genetic trait.
Crigler-Najjar Syndrome criglernajjar syndrome. DESCRIPTION Two distinct, inherited, syndromes marked by deficiencies of hepatic Type II, Arias syndrome, is an autosomal dominant form; one parent will http://www.5mcc.com/Assets/SUMMARY/TP0237.html
Austin Health Information An overview of criglernajjar syndrome including symptoms, treatment and prevention. http://www.austin360.com/shared/health/adam/ency/article/001127.html
Medical Encyclopedia: Crigler-Najjar Syndrome (Print Version) Medical Encyclopedia criglernajjar syndrome. Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome. http://www.nlm.nih.gov/medlineplus/print/ency/article/001127.htm
Extractions: To close this window, click on the "x" in the upper right hand corner of the window. URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001127.htm Alternative 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, 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 kernicterus, which is bilirubin toxicity of the brain and which can be fatal.
► Crigler-Najjar Syndrome criglernajjar syndrome. Prevention Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome. http://www.umm.edu/ency/article/001127prv.htm
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Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Go To Main Page Alternate Names : Arias Syndrome (Type II Crigler-Najjar), Glucuronyl Transferase Deficiency (Type I 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. Liver Anatomy 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.
Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia
Extractions: Health-Nexus.Net Health-Nexus.Org The #1 Health information site Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Crigler-Najjar Syndrome MEDLINEplus Medical Encyclopedia: Crigler-Najjar syndrome Crigler-Najjar syndrome. ... Causes and risks Return to top. Crigler-Najjar syndrome is inherited as an autosomal recessive trait. Parents ...
Crigler-Najjar3bis Mutations in criglernajjar syndrome patients. B-UDPGT. Laboratories specialized in the diagnosis of Crigler -Najjar syndrome University of Dundee, UK. http://it.geocities.com/criglernajjar/trebis.htm
Extractions: SYNDROME Please refer to the following link: Crigler-Najjar Web pages Other useful links: OMIN Clinical description of the Crigler-Najjar syndrome from the Online Mendelian Inheritance in Man database. NORD Clinical description of the Crigler-Najjar syndrome from the National Organization for Rare Disorders, Inc. database. Dr. Namita Roy-Chowdhury Home page of Dr. N. Roy-Chowdhury at the Albert Einstein College of Medicine of Yeshiva University, Bronx, NY. The Human Gene Mutation Database Mutations in Crigler-Najjar syndrome patients. B-UDPGT Human UDP-glucuronosyltransferase from the OMIN database. Online Medical Dictionary Medical dictionary from the CancerWeb. Yahoo.health Clinical description of the Crigler-Najjar syndrome from the database of Adam.com. Yahoo.health. Glossary of Genetic Terms Glossary of genetic term from the NIH site. Cholestyramine Information on cholestyramine frome On Health web site. Download Acrobat file data sheet of Questran. Gabriella's Crigler-Najjar Page Personal page of a Crigler-Najjar patient. More Liver Links Foundations: American Liver Foundation Children's Liver Disease Foundation Center for Liver Disease and Transplantation Children's Liver Alliance Inc. (Australia)
Crigler-Najjar3 Several gene alterations have been discovered in criglernajjar syndrome patients, leading to reduced or absent B-UDPGT activity causing hyperbilirubinemia. http://it.geocities.com/criglernajjar/tre.htm
Extractions: SYNDROME Please refer to the following link: Crigler-Najjar Web pages Other useful links Definition Crigler-Najjar disease is an autosomal recessive inherited disease characterized by a persistent unconjugated hyperbilirubinemia. Glucuronidation by the bilirubin-uridine diphosphoglucuronate glucuronosyltransferase (B-UDPGT) is required for the secretion of bilirubin into the bile. In Crigler-Najjar patients the enzyme is either inactive (type I) or severely reduced (type II). The high plasma level of unconjugated bilirubin leads to jaundice and kernicterus (bilirubin encephalopathy). Treatment Current therapy mainly consists of phototherapy (10-12 hours per day) and the patient's survival is dependent on the indefinite continuation of this therapy. Although initially very effective, phototherapy is inconvenient and the efficacy of this treatment is reduced with ageing due to increased thickness of skin and body surface/weight ratio; thus, patients are again at risk for kernicterus around time of puberty. Liver transplantation is an efficacious therapy but the number of donor organs is limited and it requires life-long immune suppression. Genetics Several gene alterations have been discovered in Crigler-Najjar syndrome patients, leading to reduced or absent B-UDPGT activity causing hyperbilirubinemia. Full-length cDNA for human B-UDPGT has been cloned and
Crigler-Najjar Syndrome (www.whonamedit.com) criglernajjar syndrome Also Hyperbilirubinaemia in newborn in crigler-najjar syndrome is called Najjar-Crigler icterus. Bibliography http://www.whonamedit.com/synd.cfm/86.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A familial form of congenital hyperbilirubinemia associated with severe disorders of the central nervous system and resembling kernicterus (degeneration of the basal ganglia). Other symptoms include jaundice of the skin, sclera, and mucous membrane. The syndrome is caused by an enzyme deficiency in the liver and faulty bilirubin conjugation. Both sexes affected. Presents with severe jaundice in the first few days after birth. Inheritance is autosomal dominant with incomplete penetration and varied expressivity. A deficiency of glucuronide formation was demonstrated by Irwin Monroe Arias in an anicteric father of two jaundiced children with a defect of hepatic glucuronyl transferase activity. This is sometimes referred to as Crigler-Najjar, type II. In Type I (above) death from kernicterus usually occurs within 15 months after birth. In Type II, which has been called AriasÂ’ syndrome, the patient may survive to young adult life.
Crigler-Najjar Syndrome Information Diseases Database criglernajjar syndrome aka/or UDP glucuronyl transferase deficiency Medical information linkscrigler-najjar syndrome specific sites. http://www.diseasesdatabase.com/ddb3176.htm
Extractions: UDP glucuronyl transferase deficiency Crigler-Najjar syndrome: Definition(s) via UMLS Code translations and terms via UMLS Crigler-Najjar syndrome: specific sites Send Crigler-Najjar syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these:
