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Lowe Syndrome: more detail

Lowe oculocerebrorenal syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Holly, MS Ishmael, 2005

Living With Lowe Syndrome: A Guide for Families, Friend, and Professionals

Living With Lowe Syndrome: A Guide for Families, Friends, and Professionals

Blood Rheology and Hyperviscosity Syndromes (Bailliere's Clinical Haematology) by Lowe, 1987-12-31

Gale Encyclopedia of Alternative Medicine: Pinched nerve by Whitney Lowe, 2001-01-01

Pinched nerve: An entry from Thomson Gale's <i>Gale Encyclopedia of Alternative Medicine</i> by Whitney Lowe, 2001

lists with details

Lowe Syndrome Association Home Page
Information about this disease and the international organization that deals with it.Category Health Conditions and Diseases lowe syndromelowe syndrome Association Home Page. Home Page. What is the lowe syndrome Association?In 1983 a handful of parents founded the lowe syndrome Association (LSA).
http://www.lowesyndrome.org/

Extractions: Home Page LSA Information About the LSA News Donations Membership ... LSA-Talk Lowe Syndrome What is Lowe Syndrome? FAQ Diagnosis Testing Labs ... Living with LS Booklet Conferences 2004 Plans Past Conferences Research Research Fund Current RFP Grants International French LSA UK Trust Australia Links Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. Also called the oculo-cerebro-renal (OCRL) syndrome, it was first described in 1951 by Dr. Charles Lowe and colleagues. In 1983 a handful of parents founded the Lowe Syndrome Association (LSA). The LSA is an international, voluntary, non-profit organization made up of parents, friends, professionals, and others who are interested in Lowe syndrome, a rare genetic condition that affects boys. The primary purposes of the LSA are: to foster communication among families
600 Mile Walk
Information about the walk as well as the disease. Details about the different ways one can support the cause.
http://www.600milewalk.org
UK Lowe Syndrome Trust
The lowe syndrome Trust is a UK Charity formed in June 2000 as an affiliate of the USA lowe syndrome Association (LSA).
http://www.lowetrust.com/

Extractions: registered charity no 1081241 Home Donations Research Grants About the LST ... Contact Welcome to the UK Lowe Sydrome Trust website Lowe Syndrome is a genetic disease that can occur with no family history, affecting boys with multiple physical and mental handicaps including cataracts, muscle weakness (hypotomia - floppy baby syndrome), kidney problems, arthritis, poor growth, mental impairment (autistic spectrum disorder) and epilepsy. The Lowe Syndrome Trust is a UK Charity formed in June 2000 as an affiliate of the USA Lowe Syndrome Association (LSA). As most children's charities exclude funding medical research, the primary aim of the Trust is to encourage medical research into Lowe Syndrome and provide UK support by raising funds for research into Lowe Syndrome in the UK, and internationally through the LSA and worldwide affiliates.
Pediatric Database
An in depth look at lowe syndrome starting with a definition, epidemiology, pathogenesis, clinical features, investigations and management.
http://www.icondata.com/health/pedbase/files/LOWE(OCU.HTM
Lowe Syndrome Association
lowe syndrome Association Home Page. Home Page What is lowe syndrome? Whatis lowe syndrome? lowe syndrome (LS) is a rare genetic
http://www.lowesyndrome.org/ls/lsWhatIs.html

Extractions: Home Page What is Lowe Syndrome? LSA Information About the LSA News Donations Membership ... LSA-Talk Lowe Syndrome What is Lowe Syndrome? FAQ Diagnosis Testing Labs ... Living with LS Booklet Conferences 2004 Plans Past Conferences Research Research Fund Current RFP Grants International French LSA UK Trust Australia Links What is Lowe Syndrome? Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (oculo-cerebro-renal) syndrome. Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most boys are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of the boys with Lowe syndrome, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases.
Lowe Syndrome (LS)
lowe syndrome, the synonyms, a summary and list of major features.
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome401.html

Extractions: Syndrome Lowe syndrome (LS) Synonyms Lowe-Terrey-MacLachlan syndrome oculocerebrorenal (OCR, OCRL) syndrome Summary A syndrome of congenital cataracts, hydrophthalmia, delayed growth and mental development, vitamin D-resistant rickets, aminoaciduria, and reduced production of ammonia by the kidneys. Additional manifestations include areflexia, hypotonia, glaucoma, corneal keloid, and noninflammatory arthropathy. Major Features Eyes: Cataracts, hydrophthalmia, corneal opacity, glaucoma, corneal keloid, and nystagmus. Thorax: Pectus excavatum. Muscles: Hypotonia and hypoplasia. Bones and joints: Vitamin D resistant rickets, joint hypermobility, noninflammatory arthropathy, osteoporosis, and fractures. Nervous system: Intention tremor, seizures, and diminished deep tendon reflexes. Urogenital system: Renal tubular dysfunction, underdeveloped glomeruli, and progressive renal failure. Cryptorchidism is the main genital abnormality. Biochemical and metabolic features: Hyperchloremic acidosis, acid urine, reduced ammonia production, proteinuria, aminoaciduria, phosphaturia, carnitine wasting, and elevated creatine kinase, aspartate aminotransferase, lactate dehydrogenase, total serum proteins, alpha-2-globulin, and high density lipoprotein.
600 Mile Walk
lowe syndrome lowe syndrome (LS) is a rare genetic condition thatcauses physical and mental handicaps, and medical problems. It
http://www.600milewalk.org/about.html

Extractions: Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most boys are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of the boys with Lowe syndrome, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases. While not present at birth, many Lowe Syndrome boys develop kidney problems at approximately one year of age. This is characterized by the abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin and other small proteins, calcium, phosphate, glucose, and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction and can also be seen in certain other diseases and syndromes. In Lowe syndrome, the Fanconi syndrome may be mild and involve only a few substances or may be severe and involve large losses of many substances. Medications can be prescribed to replace the lost substances.
Rd.com:
lowe syndrome, its alternate names, a general discussion and resources.
http://www.rd.com/common/nav/index.jhtml?articleId=8612077
Pediatric Database
1. Background. lowe syndrome first described in 1952
http://www.icondata.com/health/pedbase/files/LOWE%28OCU.HTM
Lowe Syndrome Association
Home Page Publications Living with lowe syndrome. LSA Information
http://www.lowesyndrome.org/lwls/lwls-toc.html

Extractions: Home Page Publications Living with Lowe Syndrome LSA Information About the LSA News Donations Membership ... LSA-Talk Lowe Syndrome What is Lowe Syndrome? FAQ Diagnosis Testing Labs ... Living with LS Booklet Conferences 2004 Plans Past Conferences Research Research Fund Current RFP Grants International French LSA UK Trust Australia Links Living with Lowe Syndrome Table Of Contents Foreword I. Frequently Asked Questions II. Background III. Medical Features IV. Genetics V. Research VI. Development and Education VII. Parents and Families: Living with LS VIII. The Lowe Syndrome Association IX. Glossary X.Medical and Scientific References Table of Contents Foreword I. Frequently Asked Questions II. Background A. Historical Review B. Incidence and Prevalence
UK Lowe Syndrome Trust
lowe syndrome. lowe syndrome is named after Doctors Lowe, Terrey, and MacLachlanwho first described in 1952 at the Massachusetts General Hospital in Boston.
http://www.lowetrust.com/about_lowes.shtml

Extractions: registered charity no 1081241 Home Donations Research Grants About the LST ... Contact Lowe syndrome is caused by a low activity of the enzyme inositol polyphosphate 5-phosphatase OCRL-1, which is encoded by the OCRL "Lowe Syndrome" is named after Doctors Lowe, Terrey, and MacLachlan who first described in 1952 at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (Oculo-Cerebro-Renal) syndrome. The syndrome is caused by a DNA mutation - a single defective gene on the X-chromosome - that results in the lack of an enzyme. The mutation can occur without any family history or be hereditary. Boys are born with cataracts, hypotomia (muscle weakness), kidney problems (wasting of essential nutrients) poor growth, intellectual impairment (autistic spectrum disorder) and may later suffer from arthritis, rickets, epilepsy (seizures) and behavior problems. The diagnosis may be confirmed by testing for reduced levels of the OCRL enzyme in cultured skin fibroblasts or by a DNA test using a blood sample. Some boys are mildly affected and able to attend normal schools with special needs help, while others are severely affected with loss of sight and mobility. The NHS approach is of separate treatments for each clinical symptom, and family support by the local authorities through a special needs assessment A complete description is available from the Lowe Syndrome Association USA booklet
Lowe Syndrome
lowe syndrome. Who to Contact Where to Go to Chat with Others Learn More AboutIt Web Sites Search AltaVista for lowe syndrome . Books on Lowe's Syndrome.
http://www.familyvillage.wisc.edu/lib_lowe.htm
Health Information Resource Database: Lowe Syndrome Association, Inc.
lowe syndrome Association, Inc. Contact Information. Secretary 222 Lincoln StreetWest Lafayette, IN 47906. Abstract. The lowe syndrome Association, Inc.
http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2056
Database Search Results
Database Search Results. Searched keywords for Lowe's Syndrome.lowe syndrome Association, Inc. NHIC Home Page
http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Lowe's Syndrome
The Contact A Family Directory - LOWE SYNDROME
printer friendly, lowe syndrome, lowe syndrome ASSOCIATION. lowe syndromeAssociation 29 Gleneagles Drive Penwortham Preston PR1 0JT
http://www.cafamily.org.uk/Direct/l39.html

Extractions: printer friendly LOWE SYNDROME home more about us in your area conditions information ... how you can help search this site Lowe Syndrome: oculo-cerebro-renal syndrome This condition is a rare, inheritable, progressive metabolic disease affecting the eyes, brain and kidneys. The eye is affected by cataracts present from birth; glaucoma nystagmus (rolling of the eyes) and strabismus (squint) are also common. Corneal opacity due to overgrowth of scar tissue can occur in about half the patients, and may cause blindness if it covers the central portion of the cornea. Renal tubular dysfunction, which causes loss of phosphate, acidosis, short stature, and renal rickets, is treatable with phosphate and bicarbonate replacement therapy. Learning ability varies from mild to normal or severe difficulties. Behavioural problems are also common. Seizures affect about half of the children diagnosed with the syndrome. There is no specific treatment available although medications may be helpful for the neurological and behavioural abnormalities. Inheritance patterns X-linked. The gene causing Lowe syndrome has been identified and over 70 different alterations in the gene have been described in patients. The gene encodes an enzyme (phosphatidylinositol 4,5 bisphosphate 5-phosphatase) the function of which can be tested in a small sample of skin that has been cultured in the laboratory. Demonstrating loss of function of the enzyme is the most straightforward and definitive laboratory test for Lowe syndrome.
Lowe Syndrome
lowe syndrome. Lowe's Syndrome Association, Inc. 222 Lincoln St West Lafayette, IN47906 Phone (317) 7433634 Contact Kaye McSpadden E-mail kayeuulsa@aol.com
http://www.kumc.edu/gec/support/lowe.html
Lowe Syndrome (Specific Eye Conditions Web Site)
lowe syndrome Trust. lowe syndrome Trust, 77 West Heath Road, Hampstead, LondonNW3 7TH. If you are a family affected by lowe syndrome, contact us.
http://www.eyeconditions.org.uk/lowe.htm

Extractions: Lowe Syndrome Trust, 77 West Heath Road, Hampstead, London NW3 7TH Tel: +44 (0)208 458 6791 E-Mail: lthomas@ lowetrust.com Website: www.lowetrust.com In 1983 a handful of parents founded the Lowe Syndrome Association (LSA). The LSA is an international, voluntary, non-profit organization made up of parents, friends, professionals, and others who are interested in Lowe syndrome, a rare genetic condition that affects boys. The primary purposes of the LSA are: Since Lowe syndrome is rare, affected families often feel isolated and alone. If you know of such a family, you can help by giving them information about the Lowe Syndrome Association. If you are a family affected by Lowe syndrome, contact us. You are but an email message away from linking with other families living with this rare and complicated condition. Return to SPECS Home Page
Health Library - Lowe Syndrome
lowe syndrome. None. General Discussion. lowe syndrome, also known as oculocerebro-renalsyndrome, is a rare inherited metabolic disease that affects males.
http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw
Health Library - Lowe Syndrome
lowe syndrome. Self Help Clearinghouse. lowe syndrome Association. Internationalnetwork. Founded 1983.Fosters communication
http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29l
Health Library - Lowe Syndrome
lowe syndrome. None. General Discussion. lowe syndrome, also known as oculocerebro-renalsyndrome, is a rare inherited metabolic disease that affects males.
http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

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