Glossary

Carbohydrates: certain foods that are high in starch and a good source of energy, including breads, pastas, beans, potatoes, bran, rice, and cereals.
Carrier: an individual who has inherited a disease-causing genetic mutation for an autosomal recessive disorder; such carriers will not have symptoms of that disorder.
Central nervous system (CNS): made up of the spinal cord and brain; the CNS coordinates the activities of all parts of body.
Centromere: region of a chromosome found near its middle where individual chromosomes in a pair come in contact during cell division.
Chloroquine: is a drug that was developed to treat malaria, then has found to be useful also in the treatment of PCT.
Chorionic Villus Sampling (CVS): a procedure used in the first trimester of pregnancy to diagnose genetic disorders; the procedure is done by the removal of a small piece of placenta tissue (chorionic villi) from the uterus during early pregnancy to screen the baby for genetic defects.
Chromatography: a method of separating and identifying the various components of a mixture.
Chronic (or Chronically): a situation or disease with a long duration.
Cirrhosis: extensive scarring of the liver, which is the end result of many chronic diseases involving the liver.
Coding, or encoding: the process of using the instructions in DNA to make specific proteins.
Compensate: to make up for something that is missing.
Complex carbohydrates: a component of food, commonly known as starches; these are large molecules that take longer for our bodies to break down.
Congenital: a condition that is present at birth, as a result of either heredity or environmental influences.
Congenital Erythropoietic Porphyria (CEP): a cutaneous porphyria due to a marked deficiency of the enzyme, uroporphyrinogen III synthase.
Coproporphyrin: a compound derived from coproporphyrinogen. Increased coproporphyrin levels in the urine may indicate Congenital Erythropoietic Porphyria.
Coproporphyrinogen I: an intermediate porphyrinogen in heme biosynthesis pathway. This compound is not physiologic and cannot be metabolized further.
Coproporphyrinogen III: an intermediate porphyrinogen compound in heme biosynthesis pathway that is metabolized in the pathway.
Coproporphyrinogen oxidase: an enzyme in the heme biosynthesis pathway; its deficiency results in autosomal dominant Hereditary Coproporphyria (HCP).
Cutaneous: refers or pertains to the skin, as in “cutaneous porphyria,” a porphyria whose symptoms affect primarily the skin.
Cytochromes: heme-containing proteins involved in cellular functions requiring oxygen; cytochrome P-450 is a subgroup that is particularly abundant in the liver.
Cytoplasm: the jellylike substance inside a cell that surrounds its nucleus.