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Beta-Mannosidosis

Beta-Mannosidase Deficiency


Presentation

  • People have been described with a wide spectrum of clinical presentations from infants and children with intellectual disability to adults who present with isolated skin findings (angiokeratomas).Most cases are identified in the first year of life with[en.wikipedia.org]
  • Pseudoxanthoma elasticum was also present, but whether it is a complication of beta-mannosidosis or not remains unknown.[ncbi.nlm.nih.gov]
  • Beta-mannosidosis is inherited in an autosomal recessive manner. [1] Affected individuals appear normal at birth, and can have a variable clinical presentation.[ipfs.io]
Recurrent Respiratory Infections
  • This autosomal recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia[ncbi.nlm.nih.gov]
  • Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.[linkedlifedata.com]
Recurrent Infection
  • infections Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ] 0002719 Tortuosity of conjunctival vessels 0000503 Showing of 17 Last[rarediseases.info.nih.gov]
  • Further investigation of this gipsy family revealed β‐mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. β‐Mannosidase activity was completely[dx.doi.org]
  • Clinically, typical symptoms considered associated with the disease are mental retardation, hearing loss, angiokeratomas, recurrent infection, skeletal and facial dysmorphism. However, the severity of phenotypic expression varies.[doi.org]
  • infections, and monocytosis Bruck syndrome 1 Pulmonary atresia with ventricular septal defect Follicle-stimulating hormone deficiency, isolated Methylmalonic aciduria, cblA type Dwarfism Microcephaly-albinism-digital anomalies syndrome Tyrosinemia type[checkrare.com]
Cerebral Palsy
  • 94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100[books.google.ro]
  • palsy Bilateral parasagittal parieto-occipital polymicrogyria Scheie syndrome Microcephaly brain defect spasticity hypernatremia Emery-Dreifuss muscular dystrophy, X-linked Tarlov cysts Battaglia-Neri syndrome Xeroderma pigmentosum Oligoastrocytoma 2[checkrare.com]
  • Palsy and Developmental Medicine, American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Medical Association, Association of Military Surgeons of the US, Child Neurology Society, Southern Pediatric Neurology[emedicine.medscape.com]
Unable to Stand
  • Kids are born unable to stand and with nodding heads and front legs unable to straighten 0 Comments 0 Likes Statistics Notes Be the first to like this Views Total views 83 On SlideShare 0 From Embeds 0 Number of Embeds 0 Actions Shares 0 Downloads 1 Comments[slideshare.net]
Thrombosis
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.ro]
Muscle Spasticity
  • Spastic paraplegia 51 Lachiewicz Sibley syndrome 22q11.2 duplication syndrome Subaortic stenosis short stature syndrome Ouvrier Billson syndrome Short rib-polydactyly syndrome type 3 Oculocutaneous albinism type 1 Bardet-Biedl syndrome 3 Autosomal dominant[checkrare.com]
Skin Lesion
Hearing Impairment
  • Showing of 17 80%-99% of people have these symptoms Abnormal facial shape Unusual facial appearance 0001999 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of the abdominal wall musculature 0005247 Intellectual disability Mental[rarediseases.info.nih.gov]
  • Further investigation of this gipsy family revealed β‐mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. β‐Mannosidase activity was completely[dx.doi.org]
  • Clinical features and severity of symptoms are widely variable within alpha-mannosidosis but, in general, the disorder is characterized by skeletal abnormalities, immune deficiency, hearing impairment, and mental retardation.[mayomedicallaboratories.com]
Psychiatric Manifestation
  • "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of Inherited Metabolic Disease. 30 (5): 631–641. doi : 10.1007/s10545-007-0661-4. PMID 17694356.[ipfs.io]
  • "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of Inherited Metabolic Disease . 30 (5): 631-641. doi : 10.1007/s10545-007-0661-4 . PMID 17694356 . subscription required Reference, Genetics Home.[popflock.com]
  • "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of Inherited Metabolic Disease. 30 (5): 631–641. doi : 10.1007/s10545-007-0661-4. PMID 17694356. subscription required Reference, Genetics Home.[enhancedwiki.territorioscuola.it]
  • "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of Inherited Metabolic Disease . 30 (5): 631–641. doi : 10.1007/s10545-007-0661-4 . PMID 17694356 . subscription required Reference, Genetics Home.[howlingpixel.com]
Abnormal Behavior
  • In brief, these abnormal behaviors were suggestive of simple and complex motor and vocal tics associated with hyperactivity, obsessive-compulsive disorder, autoaggressiveness, and heteroaggressiveness.[jamanetwork.com]
Seizure
  • This autosomal recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia[ncbi.nlm.nih.gov]
  • Seizure 0001250 5%-29% of people have these symptoms Demyelinating peripheral neuropathy 0007108 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality[rarediseases.info.nih.gov]
  • In terms of beta-mannosidosis treatment there is none currently, individuals that exhibit muscle weakness or seizures are treated based on the symptoms(since there's no cure) Beta-mannosidase Alpha-mannosidosis Molho-Pessach, Vered; Bargal, Ruth; Abramowitz[en.wikipedia.org]
Behavior Problem
  • In humans, mental retardation, hearing loss, frequent infections, and behavioral problems are relatively common. Dysmorphology and skeletal involvement such as those seen in ruminants are unusual.[ncbi.nlm.nih.gov]
  • Because of its rarity, and non-specific clinical findings, beta-mannosidosis can go undiagnosed until adulthood, where it can present with intellectual disability and behavioral problems, including aggression.[en.wikipedia.org]
  • Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression.[ismrd.org]
  • problems, including aggression. [3] A diagnosis of beta-mannosidosis is suspected based on the patients clinical presentation.[ipfs.io]
Polyneuropathy
  • […] recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy[ncbi.nlm.nih.gov]
  • This disorder is characterized by mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly[genome.jp]
Speech Disorders
  • disorder Speech impairment Speech impediment [ more ] 0002167 Recurrent infections Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more[rarediseases.info.nih.gov]
Dysarthria
  • Symptoms progressively worsened and, at age 26, the patient suffered from tetraplegia, dysphagia and dysarthria. Brain MRI showed a striking cortical and subcortical atrophy while there was no noticeable demyelination.[bmcmedgenet.biomedcentral.com]
  • […] refractive errors Spinocerebellar ataxia autosomal recessive 7 Agammaglobulinemia, non-Bruton type IL12RB1 deficiency MYD88 deficiency Goldmann-Favre syndrome Usher syndrome, type 1 Progressive deafness with stapes fixation Sensory ataxic neuropathy, dysarthria[checkrare.com]

Workup

  • An initial diagnostic workup may include a multi-enzyme screening assay for several oligosaccharidoses, including mannosidosis in leukocytes or fibroblasts (OLIGU / Oligosaccharide Screen, Urine; OLIWB / Oligosaccharidoses Screen, Leukocytes; or OLITC[mayomedicallaboratories.com]

Treatment

  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Studies of this possible chimera provided preliminary evidence for the efficacy of prenatal treatment of early-onset neurodegenerative disorders.[ncbi.nlm.nih.gov]
  • There is no treatment for this disease. Always speak to your doctor about the best personal plan of action.[diseaseinfosearch.org]

Etiology

  • (Etiology) Alpha-Mannosidosis is an autosomal recessive genetic disorder caused by a mutation on the MAN2B1 gene Typically, this gene provides the coding for the production of the alpha-D-mannosidase enzyme; an enzyme, which has an important role to play[dovemed.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.ro]
  • The overall frequency of either p.R59H or 1622-1627insG was 57.7% of the disease-causing alleles, and this epidemiological study suggested a carrier frequency of 1:58 for this population 31 .[centogene.com]
  • Benli IT et al (1992) Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 74:504–506 PubMed Google Scholar 5.[link.springer.com]
  • Epidemiology In 2005, Marsden et al compiled a report of physician narratives from an epidemiologic study regarding infantile-onset Pompe disease.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Serial MRI showed generalized cortical and subcortical atrophy in the absence of white matter changes suggesting an additional axonal pathophysiological component.[ncbi.nlm.nih.gov]
  • The cytogenetic location of the gene is 4q24, furthermore the condition is inherited in an autosomal recessive manner The pathophysiology of this condition, is better comprehended, if one first looks at the normal function of beta-mannosidase such as[en.wikipedia.org]

Prevention

  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.com]
  • CC BY-ND CC-BY-NC-ND Restrictive Licence : A licence preventing reuse of material unless certain restrictive conditions are satisfied. Note licence restrictions, and contact rights holder for permissions beyond the terms of the licence.[researchdata.ands.org.au]
  • Although treatment is mostly supportive and aimed at preventing complications, hematopoietic stem cell transplant has been reported to be a feasible therapeutic option. The incidence of alpha-mannosidosis is estimated at 1 in 500,000 live births.[mayomedicallaboratories.com]
  • Podocytes are special kidney cells with a crucial role in preventing escape of protein from blood to the urine.[rarediseasesnetwork.org]

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