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Updated: Aug 27, 2025

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Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

Vykuntaraju Kammasandra Gowda1, Varunvenkat M Srinivasan1, Ashwin V Sardesai1

  • 1Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Journal of Pediatric Neurosciences
|September 26, 2022
PubMed

Insights

Alpha-mannosidosis, a rare genetic disorder, is caused by MAN2B1 gene mutations. This study identifies a new pathogenic variant in a child with developmental delay and seizures, highlighting the importance of genetic testing.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Alpha-mannosidosis is a rare lysosomal storage disorder.
  • It results from mutations in the MAN2B1 gene, affecting alpha-mannosidase enzyme activity.
  • Clinical presentation includes developmental delay, seizures, and hearing impairment.

Keywords:
Alpha-mannosidosisIndian girlMAN2B1 gene

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