Genetic conditions like CDG are very complex. Whether you have recently been diagnosed with CDG, or are caring for a loved one with CDG, you may come across new terminology that could seem unfamiliar. Below is a list of terms that can help you understand CDG and communicate needs with health care professionals.
High-energy forms of sugars.
Abnormal or uncontrolled coordinated movements and can affect balance and speech.
Humans have 23 pairs of chromosomes. One pair determines which sex a person is (XX: female; XY male). The other 22 pairs are called autosomes.
Autosomal dominant inheritance
A type of inheritance that relates to genes that are located on autosomes. Cells typically contain two copies of a gene. A CDG that is autosomal dominant means that only one copy of a gene must be faulty to cause disease.
Autosomal recessive inheritance
A type of inheritance that relates to genes that are found on autosomes. Cells typically contain two copies of a gene. A CDG that is autosomal recessive means that both copies of a gene must be faulty to cause disease.
A heart muscle disease.
A person who has the gene for a condition or trait that can be passed on to his or her children.
DNA-containing structures located in the nucleus of cells that contain all or most of the genes in an organism.
Studies that generate medical information on humans.
A study that assesses clinical interventions in participants, which are assigned by the study investigator.
Term used to describe a condition someone has from birth.
A product taken by mouth that contains a ‘dietary ingredient’ intended to supplement the diet such as a sugar.
Disorders caused by incorrect or abnormal glycosylation of protein known as dystroglycan.
A speech caused by muscle weakness
A network of membranes inside a cell through which proteins and other molecules move and where glycosylation commonly occurs.
Complex proteins produced by cells that cause biochemical reactions.
A test that is done to measure a protein’s activity to determine how efficient the protein is in biochemical reactions.
Failure to thrive
Term used to describe when a child does not gain weight as he or she should.
A coding sequence in the DNA. A specific mistake in a gene causes a specific disease.
Changes in the DNA code in a specific gene.
A DNA code written using four letters: A, T, C, and G.
Relating to or caused by genes.
A cell compartment involved with processing and modifying proteins and lipids and where glycosylation commonly occurs.
A sugar chain. Also called an oligosaccharide.
Sugar blocks attached to proteins.
Sugar blocks attached to lipids.
The process of adding sugars to molecules, such as proteins or lipids.
A condition where blood sugar levels are low.
A condition where the thyroid gland does not generate sufficient thyroid hormone levels.
A term that refers to decreased muscle tone.
A group of organic molecules that are not soluble in water (sometimes referred to as fats).
The process by which your body converts what you eat and drink into energy.
A trait or condition that is controlled by one gene.
A simple sugar, such as glucose.
A disease that affects two or more body systems.
Natural history study
A type of observational study that gathers information on patients to understand how a disease develops and progresses, as well as treatment options.
Involuntary eye movements.
A study that monitors how a disease progresses and the health outcomes. Participants can receive clinical interventions in the study, but these are not assigned by the researcher.
Sugar blocks assembled in a chain. Also called a glycan.
Pathogenic genetic variant
A fault in the DNA code in a specific gene. This is also called a mutation.
The anticipated or expected medical course or outcome of a condition.
A group of disorders where the cells in the retina breakdown or are lost.
A surge of uncontrolled electrical activity in the brain.
A condition where eyes do not align and can point in different directions.
Where individuals present symptoms that resemble a stroke.
When a clot forms in a blood vessel.
A protein that helps transport iron around the body and has sugar chains on it. It is commonly analyzed for abnormal sugars in CDG diagnosis.
A type of inheritance that relates to genes that are found on the X-chromosome.