41. Adrenoleukodystrophy Professionals only. adrenoleukodystrophy,, Print this article, (ALD) anXlinked demyelinating disorder affecting about 1 in 20,000 males. It http://www.amershamhealth.com/medcyclopaedia/Volume IV 2/adrenoleukodystrophy.ht

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Adrenoleukodystrophy, (ALD) an X-linked demyelinating disorder affecting about 1 in 20,000 males. It was previously known as Schilder's disease. It is a peroxisomal disorder, resulting in hyperpigmentation, adrenocortical insufficiency, elevated ACTH, and accumulation of very long chain fatty acids. Clinically it is characterized by impaired mental intellect, behavioural problems, cortical blindness and deafness, ataxia, spasticity and motor deficits. Onset is usually before 10 years of age, with rapid progression to death over 2–3 years. Pathologically, adrenoleukodystrophy is characterized by specific diagnostic inclusion bodies in cerebral macrophages Schwann cells, adrenocortical cells and Leydig cells of the testis. The inclusion bodies are seen at electron microscopy, and consist of dense long thin leaflets enclosing an electron-lucent space. Cross-sectional imaging of the adrenals is usually unremarkable. Also, see adrenomyeloneuropathy HH The Encyclopaedia of Medical Imaging Volume IV:2 Welcome to Medcyclopaedia.

42. Adrenoleukodystrophy Professionals only. adrenoleukodystrophy,, Print this article, (ALD), aperoxisomal disorder. Peroxisomes adrenoleukodystrophy, Fig. 1 Axial T1 http://www.amershamhealth.com/medcyclopaedia/Volume VII/ADRENOLEUKODYSTROPHY.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Adrenoleukodystrophy, (ALD), a peroxisomal disorder. Peroxisomes are cell organelles involved in the peroxidation and metabolism of long chain fatty acids. One or more peroxisomal enzymes may malfunction causing systemic accumulation of very long chain fatty acids. In the brain these cause dysmyelination, i.e. defective formation or maintainance of myelin. Two types of ALD are described, X-linked and neonatal. X-linked (classical) ALD is a single enzyme defect resulting in accumulation of very long chain fatty acids in blood and skin. It presents in boys between ages 5 and 10 with gait and visual disturbance and gradual intellectual deterioration. Signs of adrenal insufficiency may be present, however, neurological deterioration may occur first. Spinal cord and peripheral nerve involvement may occur without central symptoms. Radiographically the classical CT appearances are of decreased attenuation in the parieto-occipital white matter, typically involving the splenium of the corpus callosum. Contrast enhancement may occur especially on the margins of the affected areas. MRI demonstrates decreased signal in the parieto-occipital areas on T1- and increased signal on T2-weighted sequences (

43. Adrenoleukodystrophy adrenoleukodystrophy. Back to Last Page Full Glossary . DefinitionA rare genetic disorder that affects only men and is one of http://menshealth.about.com/library/glossary/bldef-adl.htm

zfp=-1 About Men's Health Search in this topic on About on the Web in Products Web Hosting Men's Health with Jerry Kennard Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS What is Men's Health? Embarrassing Issues Glossary ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Adrenoleukodystrophy Back to Last Page Full Glossary Definition: A rar e genetic disorder that affects only men and is one of several closely related inheritable disorders. The disorder is characterised by problems in the breakdown of long chain fatty acids that affects the adrenal glands, nervous system, and testes. Recent research suggests it may be influenced by Lorenzo's oil. Research with children reveals that those not treated with the oil were almost three times more likely to develop symptoms. Also Known As: ALD Related Resources: Lorenzo's Oil and Adrenoleukodystrophy Adrenoleukodystrophy, the rare genetic disorder that affects only men may be influenced by Lorenzo's oil. Research with children reveals that those not treated with the oil were almost three times more likely to develop symptoms. Back to Last Page Full Glossary Email this page!

44. Lorenzo's Oil And Adrenoleukodystrophy Lorenzo's oil reduces the chances of developing adrenoleukodystrophysymptoms in children. Lorenzo's oil and adrenoleukodystrophy. http://menshealth.about.com/library/bllorenzo.htm

zfp=-1 About Men's Health Search in this topic on About on the Web in Products Web Hosting Men's Health with Jerry Kennard Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS What is Men's Health? Embarrassing Issues Glossary ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Lorenzo's oil and Adrenoleukodystrophy Before the release of the film Lorenzo's oil, few people will have heard of the rare genetic disease Adrenoleukodystrophy (ALD). The movie helped to raise awareness of the condition by following the struggle of one family to find a cure for this debilitating neurological disease. After two years of careful research and pushing the specialists in the field to reveal information, the family of young Lorenzo Odone finally invented an oil that, when taken, had an effect on the fatty acids that are the cause of the problem. The oil, extracted from a combination of rapeseed and olive oil has had its therapeutic effects verified by a 10 year study. The research was conducted over a 10-year trial on 104 boys with the ALD gene. All the boys were under the age of six and symptom free on commencement of the trial. Dr Hans Moser, the lead researcher, found that the boys who were not given Lorenzo's oil scrupulously were nearly three times as likely to develop symptoms as those who were given it as prescribed. However, one possible problem is that the study is a small and ran with no placebo group. It is still possible therefore that the boys could develop ALD symptoms in the adult form of the disorder.

45. EPEC - Educating Parents Of Extra-special Children - Adrenoleukodystrophy (ALD) adrenoleukodystrophy (ALD). See Also Neonatal adrenoleukodystrophy (ALD).Copyright © 2001-2002, EPEConline.com. All rights reserved. http://www.epeconline.com/Adrenoleukodystrophy.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Adrenoleukodystrophy (ALD) The term adrenoleukodystrophy encompasses two distinct genetic disorders; X-linked adrenoleukodystrophy and neonatal ALD. Both are characterized by varying degrees of adrenal involvement and demyelination. Adrenoleukodystrophy (ALD) is a serious genetic disorder which progressively affects the adrenal gland, along with the white matter of the nervous system. In ALD, there is an abnormal accumulation of very long chain fatty acids, which causes tissue damage, however the exact nature of this relationship is not understood. This kind of illness is called a peroxisomal storage disease. ALD is an X-linked disorder which means it affects only males and is transmitted by a female carrier. The first appearance of ALD varies. Usually it presents in boys of between 4 and 10 years of age, and the early signs include learning difficulties and perceptual problems, together with short- and long-term memory loss, various personality and behavioral changes, and symptoms of Attention Deficit Disorder. ALD has an adult form, usually milder than the childhood condition. This illness is called

46. EPEC - Educating Parents Of Extra-special Children - Neonatal Adrenoleukodystrop EPEC Educating Parents of Extra-special Children - Neonatal adrenoleukodystrophy(ALD). EPEC Neonatal adrenoleukodystrophy (ALD). Neonatal http://www.epeconline.com/NeonatalAdrenoleukodystrophy.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Neonatal Adrenoleukodystrophy (ALD) Neonatal ALD is autosomal recessive in its pattern of inheritance, so unlike the other form of ALD it affects both males and females. The disorder is now fairly easy to diagnose through biochemical tests, which demonstrate abnormally high levels in the tissues and body fluids of the very long chain fatty acids typical of ALD. Neonatal ALD is similar to the Zellweger cerebrohepatorenal syndrome , and may actually represent a milder variant of Zellweger. While there is no doubt that it is distinct from X-linked ALD, the exact classification of this neonatal form of ALD is still indeterminant. Individuals with Neonatal ALD suffer severe or profound mental retardation and impaired psychomotor development, together with possible impaired liver function and retarded growth. The clinical presentation and course of neonatal ALD is still not fully defined. It may take the form of an extremely severe illness with intractable seizures during the earliest part of life, or manifest as a milder form where the sufferer may survive to their mid-teens or possibly longer.

47. Short Description Of Cell Lines. Pathology Adrenoleukodystrophy Version 4.200205, Short description of cell lines. Pathology adrenoleukodystrophy/ addison disease and cerebral sclerosis *300100 OMIM record. http://www.biotech.ist.unige.it/cldb/pat41.html

48. ORPHANET® : Adrenoleukodystrophy Translate this page ORPHANET. ORPHANET database access. adrenoleukodystrophy. Directaccess to details Alias Adrenomyeloneuropathy. Home Page. http://www.orpha.net/static/GB/adrenoleukodystrophy_x_linked.html

ORPHANET database access Adrenoleukodystrophy Direct access to details Alias : Home Page

49. ORPHANET® : Adrenoleukodystrophy Translate this page ORPHANET. ORPHANET database access. adrenoleukodystrophy.Direct access to details Alias Home Page. http://www.orpha.net/static/GB/adrenoleukodystrophy_autosomal_neonatal.html

ORPHANET database access Adrenoleukodystrophy Direct access to details Alias : Home Page

50. Health Ency.: Disease: Adrenoleukodystrophy adrenoleukodystrophy. Alternative names Xlinked adrenoleukodystrophy; Melanodermicleukodystrophy; Neonatal adrenoleukodyrstophy; NALD. Definition http://www.accessatlanta.com/shared/health/adam/ency/article/001182.html

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia Important notice Ency. home Disease A Adrenoleukodystrophy Overview Symptoms Treatment Prevention Alternative names: X-linked adrenoleukodystrophy; Melanodermic leukodystrophy; Neonatal adrenoleukodyrstophy; NALD Definition: Any of several closely related inheritable disorders of the breakdown ( metabolism ) of certain fats (long chain fatty acid) that affects the adrenal glands , nervous system, and testes Causes and Risks Adrenoleukodystrophy is transmitted as an X-linked trait (the neonatal form is by autosomal recessive transmission). Its incidence is estimated at 1 out of 20,000 to 1 in 50,000 and affects all races. The metabolic defect is the accumulation of long chain fatty acids in the nervous system, adrenal gland, and testes , where the accumulated material disrupts normal activity. There are several (seven recognized) different forms of the disease. The neonatal form appears shortly after birth and includes seizures and delayed neurological development with death occurring in infancy or young childhood. The childhood cerebral form (around 4-8 years), appears in mid-childhood, and the other forms appear during adolescence . About one-third of affected people develop neurological symptoms and about 50% develop abnormal adrenal function. In the childhood form, early symptoms include

51. Partners Leukodystrophy Service At MGH Xlinked adrenoleukodystrophy and Adrenomyeloneuropathy. X-linked adrenoleukodystrophy(X-ALD) is the most common of the Leukodystrophies. http://fisher.mgh.harvard.edu/leuko/xlinkadreno.html

Home Staff Services Leukodystrophy categories Contact us Links X-linked Adrenoleukodystrophy Metachromatic leukodystrophy Globoid cell leukodystrophy Pelizaeus-Merzbacher disease CACH X-linked Adrenoleukodystrophy and Adrenomyeloneuropathy X-linked adrenoleukodystrophy (X-ALD) is the most common of the Leukodystrophies. It is a serious progressive genetic disorder associated with the accumulation of very long chain fatty acids in the adrenal cortex and neural white matter. It is best known as a disease that affects boys with an inflammatory demyelinating disorder of the brain, but can also cause a progressive neurodegeneration of the spinal cord in adult men and adult women. Very significantly, it can cause adrenal failure in boys and men who carry a disease mutation in the ALD gene. In 1993, the ALD gene was cloned. Since then, approximately 200 mutations have been discovered in the gene. Curiously, no correlation between gene mutation and disease type has been demonstrated. Bone marrow transplantation has been successfully used to treat boys who develop the earliest signs the brain form of the disease. Unfortunately, the procedure is associated with significant mortality and morbidity, and is therefore reserved for boys who are definitely developing cerebral X-ALD. It is now possible to have the ALD gene tested for mutations and to have VLCFA levels measured in plasma and in skin cells.

52. NINDS Adrenoleukodystrophy Information Page More about NINDS adrenoleukodystrophy Information Page. Content for thispage. NINDS adrenoleukodystrophy Information Page. Reviewed 1102-2001. http://accessible.ninds.nih.gov/health_and_medical/disorders/adrenolu_doc.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Adrenoleukodystrophy Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Adrenoleukodystrophy Information Page Reviewed 11-02-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Adrenoleukodystrophy? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Adrenoleukodystrophy? Is there any treatment?

53. Aetna: Lorenzo’s Oil For The Treatment Of Adrenoleukodystrophy Number 0391 Subject Lorenzo’s Oil for the Treatment of adrenoleukodystrophy. MoserHW. Treatment of Xlinked adrenoleukodystrophy with Lorenzo's oil. http://www.aetna.com/cpb/data/CPBA0391.html

Home Coverage Policy Bulletins Medical Coverage Policy Bulletins Number: 0391 Important Note http://cms.hhs.gov/manuals/pub06pdf/pub06pdf.asp Policy Aetna does not cover Lorenzo's oil for the treatment of any condition, including adrenoleukodystrophy (ALD). Although dietary therapy with Lorenzo's oil has been shown to reduce plasma concentrations of saturated very-long-chain fatty acids (VLCFAs), there is no evidence in the scientific literature that this improves or delays progression of ALD. Background Adrenoleukodystrophy is a rare X-linked metabolic disorder affecting approximately 1 in 100,000 people; most of them male. It is characterized by accumulation of saturated VLCFAs in body tissues resulting in diffuse and multifocal demyelination of the nervous system and adrenocortical insufficiency. The most common form usually affects children and is characterized primarily by cerebral demyelination, and it usually leads to total disability followed by death within a few years. In the adult variant, called adrenomyeloneuropathy, demyelination of the spinal cord and peripheral neuropathy progress slowly over many years, allowing most individuals to live a near-normal life span. Treatments for ALD are few and not extremely effective. None of them can cure the disease or reverse any damage done. Interest in dietary therapy arose from the observation that the administration of a mixture of 4 parts glyceryl trierucate oil and 1 part glyceryl trioleate oil (Lorenzo's oil), when combined with restriction of dietary intake of VLCFAs, decreases VLCFAs by as much as 50% after 4 months of use. Lorenzo’s oil provides a high dietary intake of long-chain monounsaturated fatty acids thought to monopolize the specific enzyme involved in the conversion of long-chain fatty acids to very-long-chain fatty acids. Such therapy attracted world-wide attention through a motion picture entitled "Lorenzo’s Oil".

54. Cerebral Adrenoleukodystrophy Cerebral adrenoleukodystrophy Int. Storage Dis. Collaborative Study Grp. 5 yearfollowup of 12 engrafted cases. median age @ BMT 8.3 yrs; range 5.3-11.8 yrs. http://www.pediatrics.med.umn.edu/isdcsg/pres/peters/COCALD/tsld002.htm

Cerebral adrenoleukodystrophyInt. Storage Dis. Collaborative Study Grp. 5 year follow-up of 12 engrafted cases median age @ BMT 8.3 yrs; range 5.3-11.8 yrs 10 GIS and 2 URD BMTs (donors: 1 carrier, 11 homozygous normal) Preparative therapy: busulfan/cyclophosphamide Radiation: 1 pt grade 0-I acute GVHD: 10 pts, grade II: 2 pts Previous slide Next slide Back to first slide View graphic version

55. Cerebral Adrenoleukodystrophy Cerebral adrenoleukodystrophy Int. Storage Dis. Collaborative Study Grp.94 pts, median age @ BMT 9 y; range 238 y. BMT from 7/81 to 8/97. http://www.pediatrics.med.umn.edu/isdcsg/pres/peters/COCALD/tsld001.htm

Cerebral adrenoleukodystrophyInt. Storage Dis. Collaborative Study Grp. 94 pts, median age @ BMT 9 y; range 2-38 y BMT from 7/81 to 8/97 85 pts engrafted after 1st BMT survival at 5 y: 55% 1 pt received 3 BMTs C. Peters et al. ASH Abstract #475 (poster 12/6, manuscript in preparation) Next slide Back to first slide View graphic version

56. ADRENOLEUKODYSTROPHY, PSEUDO-NEONATAL Features Listed For adrenoleukodystrophy, PSEUDONEONATAL. McKusick 264470. Abnormalliver (including function); Adrenal hypoplasia/insufficiency; Buphthalmos; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?3003

57. ADRENOLEUKODYSTROPHY, NEONATAL (AUTOSOMAL RECESSIVE) Features Listed For adrenoleukodystrophy, NEONATAL (AUTOSOMAL RECESSIVE).McKusick 202370. Adrenal hypoplasia/insufficiency; Agenesis http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?3002

58. Adrenoleukodystrophy - ALDS Back to Main List adrenoleukodystrophy (ALD). The term adrenoleukodystrophy transplant.NEONATAL adrenoleukodystrophy. Neonatal ALD http://home.vicnet.net.au/~leuko/ald.html

Back to Main List ADRENOLEUKODYSTROPHY (ALD) The term adrenoleukodystrophy encompasses two distinct genetic disorders; X-linked adrenoleukodystrophy and neonatal ALD. Both are characterized by varying degrees of adrenal involvement and demyelination. Adrenoleukodystrophy (ALD) is a serious genetic disorder which progressively affects the adrenal gland, along with the white matter of the nervous system. In ALD, there is an abnormal accumulation of very long chain fatty acids, which causes tissue damage, however the exact nature of this relationship is not understood. This kind of illness is called a peroxisomal storage disease. ALD is an X-linked disorder which means it affects only males and is transmitted by a female carrier. The first appearance of ALD varies. Usually it presents in boys of between 4 and 10 years of age, and the early signs include learning difficulties and perceptual problems, together with short- and long-term memory loss, various personality and behavioral changes, and symptoms of Attention Deficit Disorder. ALD has an adult form, usually milder than the childhood condition. This illness is called

59. CCHS Clinical Digital Library adrenoleukodystrophy Clinical Resources. adrenoleukodystrophy Access document.CliniWeb Homepage (includes links to targeted PubMed MEDLINE searches) http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/peroxisomal/adrenoleukodys

Clinical Resources by Topic: Metabolic Disorders Adrenoleukodystrophy Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Hypofunction of the Adrenal Cortex Clinical Resources Mental Retardation Clinical Resources Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources ... Adrenoleukodystrophy Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 368: Diseases of the Spinal Cord Table of contents Introduction: Access document Approach to the Patient: Access document Chronic Myelopathies: Access document Adrenomyeloneuropathy: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies: Access document Leukodystrophies: Access document Other MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO All MD Consult Reference Books for Neurology (eMedicine): Table of contents Inherited Metabolic Disorders: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Adrenoleukodystrophy: Access document CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Adrenoleukodystrophy: List of documents Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 16th Ed.-2000 (MD Consult):

60. Welcome To ENH.org - Health Encyclopedia: Adrenoleukodystrophy adrenoleukodystrophy. Alternative Names Xlinked adrenoleukodystrophy;Melanodermic leukodystrophy; Neonatal adrenoleukodyrstophy; NALD. http://www.enh.org/Encyclopedia/ency/article/001182.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Adrenoleukodystrophy Disease Injury Nutrition Poison ... Z Definition: Adrenoleukodystrophy describes any of several closely related inheritable disorders of the breakdown ( metabolism ) of certain fats (long chain fatty acid) that affects the adrenal glands , nervous system, and testes Alternative Names: X-linked adrenoleukodystrophy; Melanodermic leukodystrophy; Neonatal adrenoleukodyrstophy; NALD Causes, incidence, and risk factors: Adrenoleukodystrophy is transmitted as an X-linked trait (the neonatal form is by autosomal recessive transmission). Its incidence is estimated at 1 out of 20,000 to 1 in 50,000 and affects all races. The metabolic defect is the accumulation of long chain fatty acids in the nervous system, adrenal gland, and testes , where the accumulated material disrupts normal activity. There are several (seven recognized) different forms of the disease. The neonatal form appears shortly after birth and includes seizures and delayed neurological development with death occurring in infancy or young childhood. The childhood cerebral form (around 4-8 years) appears in mid-childhood, and the other forms appear during adolescence . About 33% of affected people develop neurological symptoms and about 50% develop abnormal adrenal function. In the childhood form, early symptoms include

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