GM2-Gangliosidosis, AB Variant
GM2-Gangliosidosis, AB Variant
OMIM number: 272750
Comments closing date: 27/06/2025
GM2-gangliosidosis, AB variant is a rare
hereditary (genetic) condition which causes
significant developmental regression and
developmental delay. It is caused when a
pregnancy inherits mutations (also called
“pathogenic variants”) in both copies of the GM2A
gene. When the GM2A gene is working, it makes
a protein which helps the cells break down a
specific fatty substance called GM2 ganglioside. If
a person is affected by GM2-gangliosidosis, this
fatty substance builds up in the brain and nerves,
which is toxic and leads to the symptoms of the
condition. Symptoms often begin in infancy (less
than 12 months) but have been reported as late as
childhood (7 to 9 years). Its symptoms include
losing previously gained milestones, and
significant global developmental delay. Infants and
children are often not able to roll over, sit unaided,
or crawl, and can develop progressive vision loss,
seizures, and intellectual disability. Sadly, they can
stop responding to the environment. The condition
is fatal and progressive, and debilitating to the
quality of life. Unfortunately, there is no cure for
this condition, and it is usually fatal in a matter of
years. Babies and children with this condition can
be provided with comfort care.
Review date: 16 May 2027
