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- Autosomal: Humans have 23 pairs of chromosomes. One pair determines which sex a person is. The other 22 are called autosomes.
- Carrier: A person who has the gene for a condition or trait that can be passed on to his or her children.
- Chromosomes: Any of the DNA-containing structures located in the nucleus of cells that contain all or most of the genes in an organism.
- Congenital: Term used to describe a condition someone has from birth already as a fetus.
- Enzymes: The complex proteins that are 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 have sufficient weight gain.
- 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: Relating to or caused by genes.
- Glycoproteins: Sugar blocks attached to proteins.
- Glycolipids: Sugar blocks attached to lipids.
- Glycosylation: The process of creating, changing and attaching sugar building blocks to proteins and lipids.
- Metabolism: The process by which your body converts what you eat and drink into energy.
- Mutations: This term was previously used by providers to describe a mistake in genetic code.
- Oligosaccharides: Sugar blocks assembled in a chain.
- Pathogenic genetic variants: Mistake in the DNA code in a specific gene. This used to be called a mutation.
- Prognosis: The anticipated or expected plan for healing or recovery.
