| Autosomal | Humans have 23 pairs of chromosomes. One pair determines which sex a person is. The other 22 are called autosomes. |
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| Carrier | A person who has the gene for a condition or trait that can be passed on to his or her children. |
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| Chromosomes | Any of the DNA-containing structures located in the nucleus of cells that contain all or most of the genes in an organism. |
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| Congenital | Term used to describe a condition someone has from birth already as a fetus. |
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| Enzymes | The complex proteins that are produced by cells that cause biochemical reactions. |
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| Enzyme assay | A test that is done to measure a protein’s activity to determine how efficient the protein is in biochemical reactions. |
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| Failure to thrive | Term used to describe when a child does not have sufficient weight gain. |
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| Gene | A coding sequence in the DNA. A specific mistake in a gene causes a specific disease. |
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| Gene variant | Changes in the DNA code in a specific gene. |
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| Genetic | Relating to or caused by genes. |
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| Glycoproteins | Sugar blocks attached to proteins. |
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| Glycolipids | Sugar blocks attached to lipids. |
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| Glycosylation | the process of creating, changing and attaching sugar building blocks to proteins and lipids. |
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| Metabolism | The process by which your body converts what you eat and drink into energy. |
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| Mutations | This term was previously used by providers to describe a mistake in genetic code. |
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| Oligosaccharides | Sugar blocks assembled in a chain. |
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| Pathogenic genetic variants | Mistake in the DNA code in a specific gene. This used to be called a mutation. |
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| Prognosis | The anticipated or expected plan for healing or recovery. |
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