A rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance, and shortened lifespan. There are currently no available treatments for AGU.


Inheritance characteristic where a gene is located on a numbered, non-sex chromosome. These are found on one of the 22 pairs of (44 total) autosomal chromosomes in a human body where DNA is stored. This is one of several ways that a trait, disorder or disease can be passed down through families. These chromosomes are not the sex (X or Y) chromosomes.


Any chromosome in a cell that is not an X or Y sex chromosome. The average person has 22 pairs of autosomes (44 autosomes in total) in each cell that define the genetic make-up, or DNA, of the being. These chromosomes store thousands of genes and they are inherited from the beings’ parents. In addition to the 22 pairs of autosomes (44 total), beings also have one pair (2 total) sex chromosomes (X and Y in a male, and X and X in a female).

Benign variant

When a variant has no impact on health and is recognized as a neutral variant.

Clinical trial

A study conducted in humans that evaluates the effectiveness, safety, and side effects of investigational products (which could include both medications, treatments, or devices) that have the possibility of treating a disease in that particular patient group.


Statistical characteristics of a human population (for example age or income) to help identify markets or segments.


A protein responsible for speeding the rate of chemical reaction in the cell of the living organism. Enzymes support a wide range of functions in an organism, as they spark chemical reactions. Enzymes work with, or interact with, substrates (the underlying surface or substance). When reacted together, the enzyme and substrate result in a new product or molecule that then separates from the original enzyme and goes on to create new reactions in the cell.

Genetic disease

A disorder in a person’s structural and functional state that is caused by a change, or mutation, in an individual’s DNA sequence.  This mutation may be hereditary.


A molecule made up of a carbohydrate and a protein that plays an essential role in the body, particularly in the body’s immune responses.


A type of glycoside. A biochemical compound having a glycosyl group attached to an amino group. They are also known as N-glycosides.