An Essential Parameters of Beta-D Mannosidosis Include Signs as well as Symptoms, Brain Image, Causes, Disorders with Similar Symptoms, Diagnosis, Treatment, Clinical Trails as well as Studies
Abstract
Within the broader category of lysosomal storage disorders, beta-mannosidosis (β-mannosidosis) is a very uncommon hereditary condition. Metabolic problems that lead to an accumulation of different hazardous chemicals, particularly in the lysosomal compartment of cells throughout the body, are indicative of lysosomal storage diseases. The intensity and age at which beta-mannosidosis manifests itself vary. Nearly all affected people experience some kind of intellectual handicap, and some have shown signs of delayed motor development. Other signs and symptoms can include muscle abnormalities, seizures, speech and hearing difficulties, decreased sensations in extremities, repeat ear and respiratory infections, unique facial features, and behavioral and psychiatric challenges. Beta-mannosidosis occurred by changes (variants or mutations) in the MANBA gene and is typically inherited in an autosomal recessive pattern.
References
Alshoraim, M. A., & Al Agili, D. E. (2021). Oral manifestation and dental treatment of a pediatric patient with beta-mannosidosis: A case report. SAGE Open Medical Case Reports, 9, 2050313X211065796. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8679027/
Lund, T. C., Miller, W. P., Eisengart, J. B., et al. (2019). Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. Molecular Genetics & Genomic Medicine, 7(7), e00712. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625138/
Bedilu, R., Nummy, K. A., Cooper, A., et al. (2002). Variable clinical presentation of lysosomal β-mannosidosis in patients with null mutations. Molecular Genetics and Metabolism, 77(4), 282–290. https://www.sciencedirect.com/science/article/abs/pii/S1096719202001725
Michalski, J. C., Klein, A., et al. (1999). Glycoprotein lysosomal storage disorders: α- and β-mannosidosis, fucosidosis, and α-N-acetylgalactosaminidase deficiency. Biochimica et Biophysica Acta, 1455(2–3), 69–84. https://www.sciencedirect.com/science/article/pii/S0925443999000770
Alkhayat, A. H., Kraemer, S. A., Leipprandt, J. R., et al. (1998). Human β-mannosidase cDNA characterization and first identification of a mutation associated with human β-mannosidosis. Human Molecular Genetics, 7(1), 75–83. https://academic.oup.com/hmg/article/7/1/75/640017
Cooper, A., Hatton, C., Thornley, M., et al. (1988). Human β-mannosidase deficiency: Biochemical findings in plasma, fibroblasts, white cells, and urine. Journal of Inherited Metabolic Disease, 11, 17–29. https://onlinelibrary.wiley.com/doi/abs/10.1007/BF01800054
International Society for Mannosidosis & Related Diseases. (2023). Beta-mannosidosis. https://www.ismrd.org/glycoprotein-diseases/beta-mannosidosis/
MedlinePlus. (2023, February 1). Beta-mannosidosis. https://medlineplus.gov/genetics/condition/beta-mannosidosis/
MedlinePlus. (2023, February 1). MANBA gene. https://medlineplus.gov/genetics/gene/manba/
Online Mendelian Inheritance in Man. (2012, July 18). Mannosidosis, beta A (OMIM Entry No. 248510). https://omim.org/entry/248510
Genetic and Rare Diseases Information Center. (2023). Mannosidosis, beta A, lysosomal. https://rarediseases.info.nih.gov/diseases/869/mannosidosis-beta-a-lysosomal
Boston Children’s Hospital. (2023). Beta-mannosidosis. https://www.childrenshospital.org/conditions/beta-mannosidosis
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