Terms to Know

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.

Activated sugars
High-energy forms of sugars.

Ataxia
Abnormal or uncontrolled coordinated movements and can affect balance and speech.

Autosomal
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.

Cardiomyopathy
A heart muscle disease.

Carrier
A person who has the gene for a condition or trait that can be passed on to his or her children. 

Chromosomes
DNA-containing structures located in the nucleus of cells that contain all or most of the genes in an organism.

Clinical studies
Studies that generate medical information on humans.

Clinical trial
A study that assesses clinical interventions in participants, which are assigned by the study investigator.

Congenital
Term used to describe a condition someone has from birth.

Dietary supplement
A product taken by mouth that contains a ‘dietary ingredient’ intended to supplement the diet such as a sugar.

Dystroglycanopathies
Disorders caused by incorrect or abnormal glycosylation of protein known as dystroglycan.

Dysarthria
A speech caused by muscle weakness

Endoplasmic reticulum
A network of membranes inside a cell through which proteins and other molecules move and where glycosylation commonly occurs.

Enzymes
Complex proteins produced by cells that cause biochemical reactions.

Enzyme assay
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.

Gene
A coding sequence in the DNA. A specific mistake in a gene causes a specific disease.

Gene variant
Changes in the DNA code in a specific gene.

Genetic code
A DNA code written using four letters: A, T, C, and G.

Genetic
Relating to or caused by genes.

Golgi apparatus
A cell compartment involved with processing and modifying proteins and lipids and where glycosylation commonly occurs.

Glycan
A sugar chain. Also called an oligosaccharide.

Glycoproteins
Sugar blocks attached to proteins.

Glycolipids
Sugar blocks attached to lipids.

Glycosylation
The process of adding sugars to molecules, such as proteins or lipids.

Hypoglycemia
A condition where blood sugar levels are low.

Hypothyroidism
A condition where the thyroid gland does not generate sufficient thyroid hormone levels.

Hypotonia
A term that refers to decreased muscle tone.

Lipids
A group of organic molecules that are not soluble in water (sometimes referred to as fats).

Metabolism
The process by which your body converts what you eat and drink into energy.

Monogenetic
A trait or condition that is controlled by one gene.

Monosaccharide
A simple sugar, such as glucose.

Multisystemic disease
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.

Nystagmus
Involuntary eye movements.

Observation study
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.

Oligosaccharide
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.

Prognosis
The anticipated or expected medical course or outcome of a condition.

Retinitis pigmentosa
A group of disorders where the cells in the retina breakdown or are lost.

Seizure
A surge of uncontrolled electrical activity in the brain.

Strabismus
A condition where eyes do not align and can point in different directions.

Stroke-like episode
Where individuals present symptoms that resemble a stroke.

Thrombosis
When a clot forms in a blood vessel.

Transferrin
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.

X-linked inheritance
A type of inheritance that relates to genes that are found on the X-chromosome.