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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

Oculocerebrorenal Syndrome
lowe syndrome is a genetic disorder, mainly to be found in boys, The Web siteof the lowe syndrome Trust provides more information about this rare
http://omni.ac.uk/browse/mesh/D009800.html

Extractions: low graphics other: Acidosis, Renal Tubular UK Lowe syndrome trust Lowe syndrome is a genetic disorder, mainly to be found in boys, characterised by multiple mental and physical handicaps. The eyes the nervous system and the kidneys are affected, giving the alternative clinical name of Oculocerebrorenal Syndrome. The Web site of the Lowe Syndrome Trust provides more information about this rare disorder, its clinical manifestations, and the treatment and care of children who suffer from it. Information is given on the Trust's support for research, its fundraising and other activities. There are links to other useful sites and pages for parents of Lowe Syndomr children. Oculocerebrorenal Syndrome
Lowe Report
lowe syndrome is a rare handicapping disorder inherited in an Xlinked Using Cytogenic and DNA techniques - to attempt to map the lowe syndrome gene on
http://bpsu.inopsu.com/Lowe report.htm

Extractions: Lowe (Oculocerebral) Syndrome Background Lowe syndrome is a rare handicapping disorder inherited in an X-linked recessive manner. Affected males are severely mentally retarded, visually handicapped (due to congenital cataracts and sometime glaucoma) and have aminoaciduria often with secondary rickets. The underlying biochemical abnormality is unknown and the diagnosis remains a clinical one. Objectives To estimate the prevalence and natural history of the condition in the British Isles Using Cytogenic and DNA techniques - to attempt to map the Lowe syndrome gene on the X chromosome Case definition Males with a) congenital cataracts and/or glaucoma and b) aminoaciduria and c) mental retardation Females with the same features who may have Turner syndrome or an X chromosome abnormality. Results In the course of the study, 27 confirmed cases were identified in the UK and the natural history of the 26 children in whom there were adequate data is presented. The 26 comprise one girl and 25 boys. 15 are familial cases from 10 families, and the remaining 10 are isolated cases. Clinical data was analysed separately for the two groups but the only differences found related to early investigation and diagnosis. The clinical course was the same in the two groups Ages ranged from 7 months to 32 years. Birth weight was normal but subsequent growth was poor particularly after the first year. Even boys who had optimally correct renal tubular acidosis remained well below the 3rd centile for height. Weight was relatively less affected and head circumference remained in the normal range. A consistent pattern of dysmorphic features emerged which became more pronounced with age.
Page Title
can t believe it has been a year since we received the lowe syndrome (LS) diagnosisfor over the LS website I had no doubt that Kyle had lowe syndrome.
http://www.main.org/txp2p/2003News/page31.html

Extractions: can't believe it has been a year since we received the Lowe Syndrome (LS) diagnosis for our son, Kyle, and my husband, Greg, Kyle and I headed off to the 2002 LSA conference in Chicago. It took us almost 12 years to receive the LS diagnosis and, during that time, we always questioned Kyle's medical and behavioral difficulties. Kyle was born October 19, 1990, two months premature and spent 4 weeks in the NICU. During those long hours and days, Kyle went through many tests and we were told he had cerebral palsy. The doctors explained he had damage to his white brain matter (cerebral palsy) and peripheral cataracts due to being on the ventilator for an extended period of time. When we finally brought Kyle home he was on an apnea monitor for the first 12 months because, at times, he forgot to breathe. As parents of a child that required constant medical attention, we knew our son had a long road ahead of him. The doctors believed Kyle would be delayed, but given time along with extensive therapy, he would catch up. We enrolled him in every form of therapy recommended by his doctors. We engaged him in play groups, early childhood schooling and social activities that we believed would enable him to play catch up. Kyle was unable to hold his head up until he was almost 9 months old. He didn't sit unassisted until almost 12 months and he didn't crawl and walk until many years later. We watched as Kyle grew and rejoiced at the milestones that are taken for granted by most parents.
House Of Commons Hansard Written Answers For 14 Dec 2004 (pt 25)
(3) what the life expectancy is of a child born with lowe syndrome; 203274.(4) what the causes are of lowe syndrome; 203275
http://www.parliament.the-stationery-office.co.uk/pa/cm200405/cmhansrd/cm041214/

Extractions: section... Parliamentary Publications and Archives Site Map Bills Hansard Directories Frequently Asked Questions Judicial Work Previous Section Index Home Page Long-Term Care (Greater London) Tom Cox: To ask the Secretary of State for Health how many older people are in receipt of long-term care within the Greater London area. [204094] Dr. Ladyman: Information about the number of places in residential care is collected, but information about the number of people in those places is not centrally available. In March 2001, there were 30,800 care home places in London for adults aged 65 and over. This includes places in residential care homes, general and mental nursing homes, private hospitals and clinics. I understand from the Chair of the Commission for Social Care Inspection (CSCI) that figures for later years were collected by the National Care Standards Commission, and now CSCI, but comparable details are not available. Lowe Syndrome Tim Loughton: To ask the Secretary of State for Health (1) how many children are diagnosed each year with Lowe syndrome in England; [203271]
GMTV - Helping Oscar
Dundee University s pioneering work into lowe syndrome. The lowe syndromeTrust is a UK Charity that was formed in June 2000 as an affiliate of the USA
http://www.gm.tv/index.cfm?articleid=10465
Association Du Syndrome De Lowe
Translate this page Association du syndrome de lowe. Association du syndrome de lowe. mise à jourle 14/10/04. Nombre de Visiteurs
http://membres.lycos.fr/asl/
Lowe's Syndrome (www.whonamedit.com)
lowe s syndrome Oculocerebrorenal dystrophy syndrome characterised by severepsychomotor retardation with growth and mental retardation/deterioration,
http://www.whonamedit.com/synd.cfm/3512.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. Oculocerebrorenal dystrophy syndrome characterised by severe psychomotor retardation with growth and mental retardation/deterioration, hyperactivity with bizarre choreoathetoid movements, and screaming. Affected persons have small eyes, congenital glaucoma, congenital bilateral cataracts, strabismus, abnormal enlargement of the eyes, muscular hypotonia, loss of reflexes. There is renal tubular dysfunction which causes proteinuria, amine aciduria and acidosis. Blindness; no deafness; Affects almost exclusively males. Symptoms apparent in very early infancy. X-linked familial syndrome transmitted by heterozygous female.
Healthfinder® - Lowe's Syndrome
Carefully selected government and nonprofit health information on lowe s syndrome.
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=505
Lowe Syndrome Information Diseases Database
lowe s syndrome,loweTerry-MacLachlan syndrome,Oculocerebral syndrome,Oculocerebrorenalsyndrome,lowe-Bickel syndrome, Disease Database Information.
http://www.diseasesdatabase.com/ddb29146.htm
Lowe S Syndrome
Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume IV 2/LOWES SYNDROME.

Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Lowe's syndrome, (Charles Lowe, born 1921, American paediatrician), (also called oculocerebral renal syndrome), initially recognized in 1952, by Lowe, Terry and McLahan who described the triad of congenital cataracts, mental retardation and generalized aminoaciduria. It is an X-linked recessive disorder, affecting males. The probable gene site is Xq24-36 and probable aetiopathogenesis is an inborn error of inositol phosphate metabolism. There have been approximately 150 reported cases. It affects males of Caucasian or Asian ancestry. Primary clinical manifestations include: congenital cataracts, cognitive impairment, and renal tubular dyfunction ( Fanconis syndrome ). Secondary clinical features include areflexia, hypotonia, glaucoma, corneal keloid, and noninflammatory joint swelling. The affected children are short in stature, likely due to renal disease. Deaths related to renal failure, dehydration, and recurrent infections have been reported. Characteristic lens opacities are seen in female carriers of the abnormal gene. The primary biomedical defects remain indeterminate. In affected individuals, renal failure usually occurs in the third decade. Classically, there are three phases of renal disease. In phase I (
Lowe S Syndrome
Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/LOWES SYNDROME.

Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Lowe's syndrome, (Charles Upton Lowe, 20th century, American paediatrician), (also called oculocerebrorenal syndrome), a rare X-linked hereditary disease probably due to abnormal inositol phosphate metabolism. Renal tubular dysfunction with metabolic acidosis develops, associated with delayed psychomotor development, noninflammatory arthropathy with pain and cataracts. MR shows white matter abnormalities in the periventricular area and centrum semiovale. Mild ventriculomegaly may be present and sometimes minor migration anomalies with polymicrogyria.
Charity Glossary
lowe s syndrome Association 29 Gleneagles Drive, Penwortham, Preston, Lancashire,PR1 0JT Tel 01772 745070. Promotes the welfare, and aims to maximise the
http://www.ivillage.co.uk/ivillageuk/tools/charity_gloss/0,,4-1206-L-,00.html
OCRL - Oculocerebrorenal Syndrome Of Lowe
Mutations linked to the disease oculocerebrorenal syndrome of lowe led to theidentification of the OCRL gene. The encoded protein is a phospatidylinositol
http://www.urogene.org/kgdb/gene/37.html

Extractions: Human Kidney Gene DataBase Name oculocerebrorenal syndrome of Lowe Symbol OCRL Aliases LOCR; OCRL1; INPP5F Gene Product Category UniGene Hs.126357 Reference Sequence mRNA: Protein: OMIM and SNP OMIM: SNP: NCBI SNP Locus LocusLink: Chromosome: X Cytoband: Xq25-q26.1 UCSC Genome Map Eesembl Genome Map Summary Mutations linked to the disease oculocerebrorenal syndrome of Lowe led to the identification of the OCRL gene. The encoded protein is a phospatidylinositol polyphosphate 5-phosphatase that is found in golgi cisternae. Expression EST (212 ESTs libraries Tissue Breadth CPM bone brain cartilage cervix colon embryo eye germ cell head and neck kidney liver lung lymph node mammary gland muscle nervous ovary pancreas parathyroid placenta prostate skin stomach testis uncharacterized tissue uterus vascular whole body SAGE (543632 tags libraries Tissue Breadth CPM brain mammary gland nervous prostate uncharacterized tissue Evidence Deletion in Kidney Neoplasms Kondo K, Yao M, Kobayashi K, Ota S, Yoshida M, Kaneko S, Baba M, Sakai N, Kishida T, Kawakami S, Uemura H, Nagashima Y, Nakatani Y, Hosaka M, Kondo K, Yao M, Kobayashi K, Ota S, Yoshida M, Kaneko S, Baba M, Sakai N, Kishida T, Kawakami S, Uemura H, Nagashima Y, Nakatani Y, Hosaka M
Lowe's Syndrome - General Practice Notebook
lowe s syndrome is an X linked condition in which there is a Fanconi syndromewith decreased urinary ammonia, organic aciduria, and sometimes a heavy
http://www.gpnotebook.co.uk/cache/-355467220.htm
Genome.gov | Suchy Lab
of Sharon Suchy s laboratory at the National Human Genome Research Institute.Research centers on understanding oculocerebrorenal syndrome of lowe, OCRL.
http://www.genome.gov/10000362
Arch Neurol -- Abstract: Mitochondrial Defects In Lowe's Oculocerebrorenal Syndr
phosphorylateoxygen ratio, indicating a partial uncoupling. These findingssuggest that lowe s syndrome could be considered a mitochondrial disease.
http://archneur.ama-assn.org/cgi/content/abstract/41/2/208

Extractions: Vol. 41 No. 2, February 1984 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Gobernado JM Gonsalvez M Contact me when this article is cited J. M. Gobernado, M. Lousa, A. Gimeno and M. Gonsalvez We performed biochemical studies on isolated mitochondria from a muscle biopsy specimen in a patient with Lowe's syndrome. Respiratory controls of mitochondrial preparations with substrates reducing nicotinamide adenine dinucleotide and with a flavoprotein-linked substrate were markedly diminished, but the oxygen consumption was normal with ascorbate and tetramethylphenylenediamine as substrates, which suggested a defect in
Lowe, Syndrome : Sites Et Documents Francophones
http://www.chu-rouen.fr/ssf/pathol/lowesyndrome.html

Extractions: maladies du système nerveux maladies et malformations congénitales, héréditaires et néonatales maladies urologiques et de l'appareil génital mâle métabolisme et nutrition, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter Ou consulter ci-dessous une sélection des principales ressources : Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; signes de la maladie, sites internet, dysmorphologie, conseil génétique, neurologie pédiatrique, centre d'action médico-sociale précoce, laboratoires de diagnostic, projets de recherche en cours, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 11/09/2003].
Lowe, Syndrome : Arborescences MeSH
page PubMed du motclef page CISMeF du motclef
http://www.chu-rouen.fr/navimesh/L/navilowesyndrome.html
Lowe's Syndrome: A Search For The Carrier State -- Holmes Et Al. 44 (3): 358 --
Pediatrics, 44359, 1969, lowe S syndrome, FEMALE CARRIERS, LENS OPACITIES,ORNITHINE LOADING TEST, OCULOCEREBRO-RENAL syndrome.
http://pediatrics.aappublications.org/cgi/content/abstract/44/3/358

Extractions: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Holmes, L. B. Articles by Efron, M. L. Pediatrics, Sep 1969, 358-364, Vol 44, No. 3 LB Holmes, BL McGowan and ML Efron Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114. ABSTRACT. An attempt to detect the female carriers of this X-linked disease has been carried out in three families, including two whose affected male infants were subjects of the original report of this syndrome. No lens opacities were found in two sets of parents. In the third family both parents had multiple small opacities. There was no difference in the urinary amino acid response of either the mothers or the fathers to an oral ornithine loading test. It has been concluded that neither test is reliable
Lowe's Syndrome - Descipher Health
External Links.Retrieved from http//www.descipher.com/health/info/lowe%27s_syndrome . Viewslowe s syndrome. From Descipher Health.
http://www.descipher.com/health/info/Lowe's_syndrome

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