• In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. (wikipedia.org)
  • Deficiency of alpha-mannosidase in cats is associated with an autosomal recessive mutation in the lysosomal alpha-mannosidase gene ( LAMAN ), although there are confirmations that different mutations may occur in certain cases (Berg et al, 1997). (basepaws.com)
  • The mutation is inherited in an autosomal recessive mode, meaning that a cat must inherit two mutated copies of the gene (alleles), one from each parent, in order to be affected by the disorder. (basepaws.com)
  • This is an autosomal recessive peroxisomal biogenesis disorder (PBD) resulting from mutations in a number of PEX genes ( PEX1 , PEX2 , PEX3 , PEX12 , PEX26 ). (arizona.edu)
  • Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. (beds.ac.uk)
  • Fucosidosis is caused by a mutation in the FUCA1 gene on chromosome 1p34, which is inherited in an autosomal recessive fashion 1-5 . (radiopaedia.org)
  • Mutations in the MAN2B1 gene cause alpha-mannosidosis. (medlineplus.gov)
  • Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. (medlineplus.gov)
  • Under the terms of the deal, Hamburg, Germany-based Centogene will perform a European epidemiological study focused on the prevalence of alpha mannosidosis (AM) - a rare genetic lysosomal storage disorder caused by mutations in the MAN2B1 gene and a core indication for Chiesi. (genomeweb.com)
  • Centogene said it will collect samples from individuals suspected to have AM using its CentoCard dried blood spot collection kit, which it will use to fully sequence MAN2B1 to identify disease-causing mutations. (genomeweb.com)
  • He had received a genetic diagnosis, showing mutation of the gene MAN2B1, because of coarse facial features and mild mental retardation. (biomedcentral.com)
  • Alpha-mannosidosis is caused by genetic changes in the MAN2B1 gene, which codes for the lysosomal alpha-mannosidase enzyme. (clinicallab.com)
  • Mutations of the MAN2B1 gene result in the lack of production of the alpha-D-mannosidase enzyme or the production of a defective, inactive form of the enzyme. (clinicallab.com)
  • Alpha mannosidosis is a lysosomal storage disorder which results in the deficiency of the production of the enzyme alpha-D-mannosidase. (basepaws.com)
  • Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. (pediatricshealthcenter.com)
  • Inherited metabolic disorders are caused by a genetic mutation, creating an enzyme deficiency that leads to an inability to break down metabolic waste products. (bethematchclinical.org)
  • Angiokeratoma corporis diffusum is the cutaneous hallmark of Fabry disease, an X-linked inherited disorder caused by a deficiency in the lysosomal enzyme alpha-galactosidase A. Decreased or absent enzyme activity causes uncleaved glycosphingolipids to accumulate in various cell types, particularly in the vascular endothelium, smooth muscle cells, and pericytes, causing ischemia and infarction of tissues. (medscape.com)
  • Deficiency or absence of alpha-galactosidase A (α-GAL A) activity as a result of gene mutations in the GLA gene (Xq21.3-q22) leads to lysosomal accumulation of neutral glycosphingolipids, most notably globotriaosylceramide (G3b). (medscape.com)
  • Aside from varying intensity of symptoms there are no other known mutations, and it is not known at this time if mutations in other genes can trigger this same disease. (bionity.com)
  • The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme. (ouhsc.edu)
  • Alpha -mannosidosis is a lysosomal storage disease. (medicinelearners.com)
  • Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
  • Patients may present to doctors, nurses or health visitors at different stages of progression, and with different ad hoc symptoms, making the link to suspect a diagnosis of alpha-mannosidosis difficult. (wikipedia.org)
  • A diagnosis of alpha-mannosidosis is suspected based upon identification of characteristic findings of a multi-symptomatic presentation, a thorough clinical evaluation, a detailed patient history, and results from the diagnostic tests described below: A. Oligosaccharides in urine A preliminary investigation may be performed to measure mannose-rich oligosaccharide concentrations in urine. (wikipedia.org)
  • Diagnosis of alpha-mannosidosis involves the detection of alpha-mannosidase enzyme activity in peripheral blood leukocytes, or white blood cells. (basepaws.com)
  • A confirmed diagnosis is documented by abnormally low or absent levels of alpha-D-mannosidase enzymatic activity in white blood cells. (ssa.gov)
  • The signs and symptoms of alpha-mannosidosis can range from mild to severe. (medlineplus.gov)
  • Other individuals with alpha-mannosidosis experience milder signs and symptoms that appear later and progress more slowly. (medlineplus.gov)
  • This is the most common form Type 3: A severe form, leading to early death from progressive central nervous system involvement However, given the variety of mutations that have been documented, and the broad range and severity of symptoms, the disease is considered clinically as a continuum. (wikipedia.org)
  • α-mannosidosis is characterized by a variety of symptoms. (medicinelearners.com)
  • Type III alpha mannosidosis is the most severe form, and signs and symptoms appear in infancy with rapid progression, severe neurological deterioration, and early death. (ssa.gov)
  • There are hundreds of different pathogenic variants of the mutation, resulting in differing symptoms and variable severity [6]. (dermnetnz.org)
  • Heterozygous mutations in the ACTB gene (7p22.1) are responsible for this apparent autosomal dominant syndrome. (arizona.edu)
  • This condition is clinically similar to Baraitser-Winter syndrome 2 ( 614583 ) which is a unique entity caused by a mutation in ACTG1 . (arizona.edu)
  • A recessive mutation that causes a congenital craniofacial defect in Burmese cats has been identified by the Lyons Feline Genetics Research Laboratory at UC Davis.The mutation affects function of a gene significant for facial development. (laboklin.co.uk)
  • Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. (beds.ac.uk)
  • It is not recommended to breed carriers of Mannosidosis in order to prevent the progression of the condition to the offspring. (basepaws.com)
  • There is no cure or treatment to alter the progression of alpha-mannosidosis. (ssa.gov)
  • Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. (medlineplus.gov)
  • Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. (wikipedia.org)
  • Alpha-mannosidosis is a progressive disorder, and its presence should be suspected in patients with cognitive disabilities, skeletal changes (e.g., swollen joints, curved spine), hearing loss and recurrent infections. (wikipedia.org)
  • The lysosomal storage disorder (LSD) alpha-Mannosidosis is a rare genetic disease and according to the EU regulations, designated as an "orphan" disease. (europa.eu)
  • Alpha mannosidosis is a lysosomal storage disorder which results in the decreased efficiency of the production of an enzyme called alpha-D-mannosidase. (basepaws.com)
  • Although there is high clinical and pathologic heterogeneity among the disease groups, the feline disorder has been linked to human α-mannosidosis (Cummings et al, 1988). (basepaws.com)
  • Alpha-mannosidosis is a rare genetic lysosomal storage disorder, affecting about one in every 500,000 people worldwide. (clinicallab.com)
  • A genetic brain disorder is caused by a variation or a mutation in a gene. (medlineplus.gov)
  • Two novel mutations of PEX6 in one Chinese Zellweger spectrum disorder and their clinical characteristics. (hanifa.ir)
  • Affected individuals are either homozygous for a single pathogenic mutation or compound heterozygous for two different pathogenic variants affecting the function of the pyruvate kinase enzyme in red blood cells and liver. (conduent.com)
  • Angiokeratoma corporis diffusum is not unique to Fabry disease and has also been documented in several other rare lysosomal storage disorders such as fucosidosis, sialidosis, GM1 gangliosidosis, galactosialidosis, beta-mannosidosis, Kanzaki disease, and aspartylglucosaminuria. (medscape.com)
  • Most of these mutations are de novo, occurring in individuals or in a small number of families. (medscape.com)
  • Final Report Summary - ALPHA-MAN (Clinical development of Enzyme Replacement Therapy in alpha-Mannosidosis patients using recombinant human enzyme. (europa.eu)
  • Today, the most promising therapy for lysosomal storage disorders including alpha-Mannosidosis is Enzyme Replacement Therapy (ERT) where the respective enzyme lacking in the patient is produced by recombinant approaches and then introduced into the blood stream, from where it is internalized by the cells and reaches the lysosomes replacing the missing endogenous enzyme. (europa.eu)
  • Since pharmaceutical interest in this disease is low, two EU-supported projects (EURAMAN and HUE-MAN) within the 5th and 6th framework program, respectively have worked towards developing the recombinant human enzyme (rhLAMAN) as a therapeutic agent for patients suffering from alpha-Mannosidosis. (europa.eu)
  • Recombinant enzyme therapy is a safe and effective way to treat rare diseases, like alpha-mannosidosis, and can improve the quality of life in patients. (clinicallab.com)
  • Alpha-Mannosidosis is caused by an enzyme defect due to mutations in the gene for lysosomal alpha-Mannosidase (LAMAN) affecting the lysosomal and cellular glycoprotein catabolism with severe consequences for the organism. (europa.eu)
  • Persons with Fabry disease who have type AB or B blood also accumulate blood group B glycosphingolipids (those with alpha-galactosyl-terminated residues) and can have more severe Fabry disease (related to greater body substrate mass) than patients with blood group A. This is because these blood groups have two additional terminal alpha-galactosyl moieties. (medscape.com)
  • Depending on which of these enzymes is deficient, human mannosidosis is classified as α-mannosidosis or β-mannosidosis (U.S. National Library of Medicine, 2018). (basepaws.com)
  • Krabbe disease is caused by mutations in the GALC gene (mapped to chromosome 14q) which encodes galactocerebrosidase, an enzyme that degrades galactosylceramide, a normal constituent of myelin. (radiopaedia.org)
  • The enzyme alpha-galactosidase A catalyses the cleavage (separation) of the terminal galactose from Gb3. (dermnetnz.org)
  • tested the efficacy of cisterna magna infusion of adeno-associated virus type 1 (AVV1) expressing a healthy feline alpha-mannosidase gene in the affected cat. (basepaws.com)
  • Alpha-mannosidosis is a lifelong multi-systemic progressive disease, with neuromuscular and skeletal deterioration over decades. (wikipedia.org)
  • In the breed British Shorthair, a mutation in the gene LTBP3 was found to cause skeletal dysplasia. (labogen.com)
  • Fabry disease is caused by a mutation of the alpha-galactosidase A gene ( GLA ) mapped to the long arm of the X chromosome [5]. (dermnetnz.org)
  • About two-thirds of members have MoCD type A, which involves mutations in molybdenum cofactor synthesis gene 1 (MOSC1). (conduent.com)
  • New and promising therapies for alpha mannosidosis include bone marrow transplantation, enzyme replacement, and gene therapy. (ssa.gov)
  • In the 1990s, the focus shifted toward elucidating the responsible mutations and characterizing the pathogenetic mechanisms by which the mutations disrupt bone growth. (medscape.com)
  • Because of the mutation, sugars abnormally accumulate and impair the function of cells in the brain and other organs. (ssa.gov)
  • KAPLAN, La. ( KLFY )- Doctors say there is a one-in-a-million chance someone would be diagnosed with a rare condition called alpha-mannosidosis. (klfy.com)
  • PIK3CA-Related Overgrowth Spectrum (PROS) is considered a rare disease that includes a group of genetic disorders, which leads to overgrowth of various body parts due to PIK3CA mutations. (conduent.com)
  • Alpha-mannosidosis is an extremely rare disease. (medicinelearners.com)
  • FDA has approved Lamzede (velmanase alfa) , the first enzyme replacement therapy approved in the US, for treating the noncentral nervous system manifestations of alpha-mannosidosis-a rare genetic condition characterized by the lack of the alpha-mannosidase enzyme in the body. (clinicallab.com)
  • Generally, phenotypes of alpha-mannosidosis patients are not clearly distinguishable, which makes a prediction of the clinical course for an individual patient challenging. (wikipedia.org)
  • The final goal of ALPHA-MAN was to make a future treatment for ALL alpha-Mannosidosis patients available and thereby dramatically improving their life expectancy and quality of life. (europa.eu)
  • Lamzede acts the same way as the alpha-mannosidase enzyme in the human body, thus, restoring normal cellular activity in patients. (clinicallab.com)
  • Lamzede's effectiveness was evaluated in adults and pediatric patients with alpha-mannosidosis in a Phase 3 multicenter, randomized, double-blind, placebo-controlled, parallel-group study. (clinicallab.com)
  • Eine Mutation im Gen CNGB3 führt zu Cone Degeneration (CD) bei der Rasse Deutsch Kurzhaar. (labogen.com)
  • A mutation in the gene CNGB3 leads to Cone Degeneration (CD) in German Short-haired Pointing Dogs. (labogen.com)
  • Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide. (medlineplus.gov)
  • No disease causing mutations detectedative result: No disease causing mutations detectedative for g.27134T>G SNP and SMN1: 2 copies. (seattlespermbank.ca)
  • Since long-term effective treatments for alpha-mannosidosis in cats have not been designed yet, it is not recommended to breed from mutation carriers in order to prevent the succession of the genetic anomaly to kittens. (basepaws.com)
  • Females are carriers of the disease and have diminished levels of alpha-galactosidase. (medscape.com)
  • The cause of α-mannosidosis lies in the inability of the enzyme α-mannosidase to function. (medicinelearners.com)
  • In non-clinical studies we also found the optimal rhLAMAN dose for a maximal correction of visceral and central nervous system pathology following injection in immune-tolerant alpha Mannosidosis mice. (europa.eu)
  • This gene encodes for alpha-L-fucosidase, which normally catalyzes the breakdown of various fucose-containing oligosaccharides, glycoproteins, and glycolipids 1,2,5 . (radiopaedia.org)
  • Research is underway to determine if cats that have one copy or no copies of the mutation can be identified just by facial type. (laboklin.co.uk)
  • Noen utvikler en spesiell type anfall med plutselig tap av muskeltonus utløst av taktil- eller hørselsstimulus (Stimulus Induced Drop Attacs/SIDA). (sjelden.no)
  • which means both copies of the gene in each cell have mutations. (medlineplus.gov)
  • The Fabry disease gene is now known as the GLA gene, which stands for alpha-galactosidase. (medscape.com)
  • More than 370 gene mutations have been identified in people with Fabry disease. (medscape.com)
  • To date, no specific treatment for alpha-Mannosidosis is available. (europa.eu)
  • In line with our plans we have been able to demonstrate the safety and clinical efficacy of rhLAMAN as an effective therapeutic agent for treatment of the human disease alpha-Mannosidosis in clinical trial Phases 1 and 2. (europa.eu)
  • We report the case of a five-year-old child, affected by alpha-mannosidosis requiring a brain magnetic resonance (MRI) and a lumbar puncture during a planned follow-up for his enzymatic substitutive treatment. (biomedcentral.com)