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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.

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.

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.

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.

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

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.

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.

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.

Relating to or caused by genes.

Golgi apparatus
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.

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.

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.

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.

Retinitis pigmentosa
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.

Stroke-like episode
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.

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