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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.