Extractions: NOVEL MUTATIONS AND HAPLOTYPE ANALYSIS IN ALPHA-MANNOSIDOSIS. Hilde MF Riise Stensland , Helle Klenow , Dag Malm , Ole K Tollersrud Departments of Medical Genetics Internal Medicine, Universital Hospital of Tromso, Tromso, Norway and Department of Medical Biochemistry, University of Tromso, Tromso, Norway. (hriise@mednet.ucla.edu Lysosomal alpha-mannosidase (LAMAN, EC 3.2.1.24) is an exoglycosidase involved in the ordered degradation of N-linked oligosaccharides. Lack of LAMAN activity leads to the lysosomal storage disorder alpha-mannosidosis (MIM 248500), an autosomal recessive disorder described in man, cattle, cat and guinea pigs. Affected individuals accumulate partially degraded oligosaccharides in the lysosomes, and typical symptoms in man are mental retardation, hearing loss, recurrent infections and various skeletal changes. We have earlier reported 23 disease causing mutations in the LAMAN gene of 42 unrelated alpha-mannosidosis patients. Here we have analysed additional 43 unrelated patients by screening for known mutations and by sequencing of the 24 LAMAN exons as well as the exon-intron borders. Thirtythree novel mutations; 9 missense, 8 nonsense, 5 splice site and 11 small insertions/deletions, were identified. In total, the 56 mutations were detected on 159 of the 170 alleles (93.5 %). Most of the mutations were private or occurred in 2-3 families, except for one missense mutation, R750W, that was detected in patients from 12 different countries, and present on 55 unrelated alleles (32.3 %). Haplotype analysis using 4 intragenic SNPs revealed that the 750W allele existed on 3 different haplotypes. The majority of the alleles where the phase could be determined (36 of 40, 90 %) shared the same haplotype, indicating that the 750W mutation probably spread by migration and founder effect. The 2 other associated haplotypes could have emerged from the ancestral haplotype by single recombinatorial events or, alternatively, resulted from recurrent mutational events.
AnyWho: Internet Directory Assistance; Yellow Pages, White Pages, Toll-Free Numb Birth Disorder Information Directory AAlpha-mannosidosis (Lysosomal Alpha-D-Mannosidase Deficiency; mannosidosis, Alpha B, Lysomal). mannosidosis Alpha-mannosidosis International Society http://www.anywho.com/cgi-bin/webdrill?catkey=gwd/Top/Health/Conditions_and_Dise
Extractions: Excessive gingival hyperplasia with storage of mannose-rich oligosaccharides appears to be a unique feature present in a 31-year- old mannosidosis patient. Fractionation and analysis of the gingiva established the presence of (Man)2GlcNAc (2.2 mumol/g), (Man)3GlcNAc (3.5 mumol/g), (Man)4GlcNAc (2.8 mumol/g) and higher oligomers (Man)5GlcNAc(Man)8GlcNAc (0.5 mumol/g); (Man, mannose; GlcNAc, N- acetylglucosamine). Eight characteristic oligosaccharides were isolated from the patient's urine by thin-layer chromatography. The most abundant was (Man)2GlcNAc (161558 mumol/l); decreasing amounts of higher homologues up to a dekasaccharide
The Turkish Journal Of Pediatrics Alphamannosidosis and mutational analysis in a Turkish patient We present a case of alpha-mannosidosis with its mutational analysis. http://tjp.dergisi.org/text.php3?id=34
Matnat-kjemi - Strukturkjemi results in inherited lysosomal storage disorder alphamannosidosis (OMIM 248500). The phenotypic response in the lysosomal alpha-mannosidosis is often http://uit.no/kjemi/strukturkjemi/?SubjectId=68&FromSubject=0
Beta-mannosidosis Treatment mannosidosis Assignment of the Lysosomal alpha mannosidase B Human mannosidosis, an inherited glycoprotein storage disorder, Since mannosidosis is believed to result from a structural defect in alpha -mannosidase http://www.overcome-diabetes.com/beta-mannosidosis.htm
Extractions: Index Affiliate Free Health Info Contact Us ... In association with Amazon.com Baby Books Classical Music Computers DVD Electronics Magazines Outdoor Living Popular Music Software Video Get the latest health info delivered directly to your inbox! Name: Email: Incurable Disease Acute Lymphocytic Leukemia Alzhiemers ... zollinger ellison syndrome Cancer anal bile duct bladder bone ... womb HIV / AIDS AIDS acute HIV HIV early HIV Heart Diseases arrhythmias cardiogenic shock cardiomyopathy endocarditis ... ventricular tachycardia Diabetes diabetes ketoacidosis nephropathy neuropathy ... type 2 Communication Disorder amblyopia aphasia autism cataracts ... hearing loss Dental Care dental caries gingivitis oral cancer periodontal disease ... toothache Hair Loss female male hair loss var sc_project=350281; var sc_partition=1; var sc_invisible=1; Bookmark Us! - Press CTRL+D Beta- Mannosidosis 50-90% OFF BookCloseOuts Treatment Overview Bone Marrow Transplant (BMT): For some years Bone Marrow Transplants (BMT) have been used to treat children with Mucopolysaccharide and related diseases. Some children with Mannosidosis have benefited from Bone Marrow Transplant, although this has not been shown to have any effect on preventing the damage to the brain that occurs in individuals severely affected by Mannosidosis.
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 ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Will, A Articles by Stevens, R. A Will, A Cooper, C Hatton, IB Sardharwalla, DI Evans and RF Stevens Department of Haematology, Royal Manchester Children's Hospital. Bone marrow transplantation was performed in a patient with alpha- mannosidosis. To our knowledge this is the first time such treatment has been attempted. The patient died 18 weeks after successful grafting and specimens of tissues were obtained at necropsy. Alpha-mannosidase activity
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 ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Milla, P. Articles by Oberholzer, V PJ Milla, IE Black, AD Patrick, K Hugh-Jones and V Oberholzer The clinical, radiological, and biochemical features of 2 male children with mannosidosis are described. Superficially they appeared to suffer from Hurler's syndrome, but the facies, eye signs, radiological and cytological features were atypical. Excess urinary oligosaccharides were found by thin-layer chromatography. The diagnosis was confirmed by determining the
Extractions: This Article Full Text (PDF) Submit a response 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 PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Prence, E. M. Articles by Natowicz, M. R. EM Prence and MR Natowicz Division of Medical Genetics, Eunice Kennedy Shriver Center for Mental Retardation, Waltham, MA 02254. alpha-Mannosidosis is a lysosomal storage disease resulting from a deficiency of lysosomal alpha-mannosidase activity. Diagnosis of alpha- mannosidosis has traditionally been accomplished by demonstrating reduced alpha-mannosidase activity in leukocytes. We describe a new assay of alpha-mannosidase in serum or plasma that allows specific detection of the enzyme deficiency in alpha-mannosidosis with small, easily obtained sample
Mannosidosis - Definition Of Mannosidosis In The Medical Dictionary - By The Fre www.allshowcase.com/Health_and_Fitness/Conditions_ www.webstersonline-dictionary.org/definition/engl Enzyme replacement therapyan experiment of nature in a chimeric Enzyme replacement therapy was studied in a chimeric mannosidosis calf which had received a natural transplacental transplant of normal lymphocytes from its http://medical-dictionary.thefreedictionary.com/mannosidosis
Extractions: This Article correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted Alert me if a correction is posted Services 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 Andria, G. Articles by Sly, W. S. G Andria and WS Sly We have examined extracts of fibroblasts from patients with mannosidosis, mucolipidosis (ML) II, ML III, and normal controls for alpha-D-mannosidase activity against 4-methylumbelliferyl-alpha-D- mannopyranoside to test for the presence of the "intermediate" pH 5.5 enzyme activity that has been called the "Golgi mannosidase." Fibroblast extracts were prepared by sonication and sedimented to separate membrane-associated activities from cytosolic and lysosomal alpha-D-mannosidases. Membranes were extracted by
Extractions: This Article Figures Only Full Text Full Text (PDF) ... Alert me if a correction is posted Services Email this article 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 Gutschalk, A. Articles by Meinck, H-M. Related Collections MRI Brief Communications A. Gutschalk, MD I. Harting, MD M. Cantz, MD C. Springer, MD K. Rohrschneider, MD and H-M. Meinck, MD From the Departments of Neurology (Drs. Gutschalk and Meinck), Neuroradiology (Dr. Harting), Pathology (Dr. Cantz), and Ophthalmology (Drs. Springer and Rohrschneider), University of Heidelberg, Germany. Address correspondence and reprint requests to Dr. Alexander Gutschalk, Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114; e-mail: -Mannosidosis is an inherited lysosomal storage disease. The
Extractions: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... Alert me if a correction is posted Services Email 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 Lott, I. T. Articles by Daniel, P. F. IT Lott and PF Daniel A trisaccharide, Man2glcNAc, was the most abundant urinary oligosaccharide (161-558 mumol per liter) in a patient with mannosidosis. By means of a newly developed high-performance liquid chromatography (HPLC) procedure, we were able to measure low levels of serum trisaccharide (0.10.4 nmol per milliliter). This is the first report of the measurements of serum oligosaccharides in mannosidosis. Our observations on the disparate relationship between serum and urinary concentrations of this trisaccharide suggest that a facilitated renal clearance of oligosaccharides may be related to the nonprogressive aspect of this disorder.
Dmoz.fr/Health/Conditions_and_Diseases/Genetic_Dis mannosidosis assignment of the lysosomal alphamannosidase B gene Human mannosidosis, an inherited glycoprotein storage disorder, has been associated Since mannosidosis is believed to result from a structural defect in http://dmoz.fr/Health/Conditions_and_Diseases/Genetic_Disorders/Mannosidosis/
Tim And Hollie's Story Their condition was not correctly identified as Alpha mannosidosis until they The diagnosis of Alphamannosidosis was confirmed when tissue samples were http://www.ldnz.org.nz/TimandHolliesStory.htm
Extractions: Our son and daughter, Timothy and Hollie are twins, born 14 November 1974. They were premature (about one month). There were some early indicators that it was more than just a rough start for them, but nothing really clear till they were about one year old and a number of milestones were not met on time. In the early years there was a series of regular respiratory infections and ENT problems. Grommet tubes were inserted in their eardrums several times, and tonsils and adenoids removed to ease things for them. Fortunately these problems did reduce in frequency and severity over time. They both have a moderate bilateral hearing loss and use hearing aids to compensate for this. Their mobility was slightly compromised as youngsters by a mildly unsteady walking gait, and this has become more significant over time. Tim was able to ride a bike till he was about 18 years old, but had increasing co-ordination problems and had to give it up due to frequent falls. He continued with Special Olympics and has taken part in soccer, basketball, athletics, and indoor bowls, but his co-ordination problems have made it difficult for him to continue with active sports, and he gave these up at age 23. Hollies mobility was badly affected by a serious arthritis problem, which started in her left hip at about 10 or 11 years of age. It was clearly a direct effect of the mannosisodis, as we were to eventually discover, though didnt know at the time.
John's Journal Issue 4 My role on the Board of the International Society for mannosidosis and related Diseases is that of AsiaPacific Co-ordinator, and I m keen to fill that role http://www.ldnz.org.nz/LDNZJohnsJournal5.htm
Extractions: John's Journal - Issue 5 This journal is a diary of John Forman's efforts to promote research and improvements to information and clinical care for Lysosomal Storage disorders, and to develop the support group, LDNZ. It is written as a record of events and contacts, and to assist those who may wish to pursue any interest in the disorders by informing them faster of what has been done, and who is doing what. March 2000 - August 2000. Planning, Publicity, Promotion and Perseverance March 2000 More networking with Lysosomal Disease contacts. Time in Christchurch after a conference gave me time to meet with Dr Dave Palmer and his research team at Lincoln University, meet the famous Batten sheep and view some of the team's slides through an electron microscope. Seeing the florescent markers on tiny parts of affected brain anatomy, is a sobering lesson about our vulnerability to the least of variations in our genetic makeup. Rachel and Michael Burke kindly put me up for the night, and over a fine dinner accompanied by fine wine and followed by an excellent single malt, I had the honour to hear the story of this couple and their experiences with two children with Sanfilippo B disease. Isolation, delayed diagnosis and a general lack of knowledge on the part of those who were best placed to know, meant an incredibly tough time for this amazing couple through the 80's and onwards, as they struggled to understand what was happening to Reuben and Joseph. Despite their burden and the loss of Reuben several years ago, Rachel and Michael did early work to set up the NZ MPS Society and have maintained family, careers and community involvement. Their experience, energy and resilience are an inspiration. I salute you both.
Extractions: 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 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 Spranger, J. Articles by Cantz, M. J Spranger, J Gehler and M Cantz Skeletal changes seen in 12 patients with mannosidosis included thickened calvaria, ovoid configuration, flattening and hook-shaped deformity of the vertebral bodies, hypoplasia of the inferior portions of the ilia, and mild expansion of the short tubular bones of the hands. The pattern of skeletal changes is that of mild to moderate dysostosis multiplex with considerable intrafamilial variation. The skeletal abnormalities may decrease with age. Correlation of the skeletal abnormalities with clinical and biochemical findings is necessary for a specific diagnosis.
Extractions: Abstract References (8) View full size inline images Transplantation Volume 61(11) 15 June 1996 p 16541655 Segoloni, Giuseppe P. ; Colla, Loredana; Messina, Maria; Stratta, Piero Nephrology Department of Turin University, S. Giovanni Battista Hospital, C.so Bramante 88, 10126, Turin, Italy Address correspondence to: Giuseppe P. Segoloni, Nephrology Department, S. Giovanni Hospital, C.so Bramante 88, 10126, Turin, Italy. Received 7 August 1995. Accepted 4 January 1996. Article Outline Mannosidosis is an inherited autosomal recessive mucopolysaccharidosis. Patients affected accumulate mannose-rich compounds in various tissues and excrete an increased quantity of oligosaccharides with mannose as a component A case of type II mannosidosis with end-stage renal failure is reported. The patient, after 6 years of regular hemodialysis treatment, received a kidney transplant. At the time this article was written, the graft was functioning well and thesaurismotic renal deposits had not been observed. The clinical course of mannosidosis was silent and the patient's quality of life was good Although the risk of recurrence could not be excluded, it seems that renal transplantation can be safely offered to patients affected with mannosidosis type II, in the rare setting of chronic renal failure
