Molecular characteristics

Humans have two copies of DNA. Individuals with GM2 activator deficiency have a disease causing error (known as mutation/variant) present on both copies of the GM2A gene. Consider the gene to be a sequence of letters that code for words. If there is any change in the sequence of letters then there is a corresponding change is the sentence. Similarly, when there is a change in the GM2A gene, subsequently there will be its effect on the produced protein.

GM2 activator is a cofactor for enzyme hexosaminidase-A which is involved in the hydrolysis of GM2 ganglioside. Thus defective activator protein can disrupt this process resulting in unwanted accumulation of GM2 ganglioside in different cells and causing clinical consequences.

How to confirm the diagnosis of GM2 activator protein?

It is important to find out the location and the type of error in the GM2A gene to confirm the diagnosis. For this purpose, there are different genetic tests available including gene sequencing, multi-gene panel testing and Exome sequencing study.

Individuals that present with a strong clinical suspicion of GM2 activator deficiency, sequencing of the entire GM2A gene can identify the cause.

Individuals where the presenting symptoms overlap with that seen in other genetic conditions, a multi-panel gene testing or Exome sequencing is the choice as multiple genes along with GM2A can be tested to identify the cause.