PulseExploreJournal ClubDebatesTrendingResearchersJournals
Instagram
HomeExploreJournal ClubTrending
Synapse
⌘+K
Synapse
April 18, 20260 citationsOpen Access

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

View Full Paper
MEMuralinath E.GMGuruprasad M.MCMadhavi Latha C

Key Points

  • To explore the clinical features, genetic causes, and treatment options related to beta-mannosidosis.
  • Review of clinical signs and symptoms associated with beta-mannosidosis.
  • Assessment of brain imaging findings.
  • Analysis of genetic mutations related to the MANBA gene.
  • Most affected individuals exhibit intellectual disabilities and delayed motor development.
  • Common symptoms include muscle abnormalities, seizures, and unique facial features.
  • Beta-mannosidosis is linked to variants in the MANBA gene inherited in an autosomal recessive manner.

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.

Ask AI
Helpful
Bookmark
Share
View Full Paper

Cite This Study

E. et al. (2026) studied this question.

synapsesocial.com/papers/69e3216540886becb65409b8https://doi.org/10.5281/zenodo.19603043
Ask AI
Helpful
Bookmark
Share
View Full Paper