Glossary
AutosomalHumans have 23 pairs of chromosomes. One pair determines which sex a person is. The other 22 are called autosomes.
CarrierA person who has the gene for a condition or trait that can be passed on to his or her children.
ChromosomesAny of the DNA-containing structures located in the nucleus of cells that contain all or most of the genes in an organism.
CongenitalTerm used to describe a condition someone has from birth already as a fetus.
EnzymesThe complex proteins that are produced by cells that cause biochemical reactions.
Enzyme assayA test that is done to measure a protein’s activity to determine how efficient the protein is in biochemical reactions.
Failure to thriveTerm used to describe when a child does not have sufficient weight gain.
GeneA coding sequence in the DNA. A specific mistake in a gene causes a specific disease.
Gene variantChanges in the DNA code in a specific gene.
GeneticRelating to or caused by genes.
GlycoproteinsSugar blocks attached to proteins.
GlycolipidsSugar blocks attached to lipids.
Glycosylationthe process of creating, changing and attaching sugar building blocks to proteins and lipids.
MetabolismThe process by which your body converts what you eat and drink into energy.
MutationsThis term was previously used by providers to describe a mistake in genetic code.
OligosaccharidesSugar blocks assembled in a chain.
Pathogenic genetic variantsMistake in the DNA code in a specific gene. This used to be called a mutation.
PrognosisThe anticipated or expected plan for healing or recovery.