Accumulation: The process of acquiring more or the build-up of a substance.
Amino Acids: Amino acids combine to form proteins and when proteins are digested amino acids remain – amino acids are either essential (obtained through the diet) or non-essential (made by the body from the essential amino acids).
Ammonia: A product of protein digestion.
Amniocytes: Cells in the amniotic fluid surrounding the fetus before birth.
Amniotic Fluid: The fluid surrounding the fetus inside the uterus.
Analysis: Examination to discover characteristics or meanings.
Anorexia: Loss of appetite.
Arginine: Non-essential amino acid (made only by the urea cycle).
Argininosuccinate or Argininosuccinic Acid: A molecule made by the urea cycle.
Aspartate: Non-essential amino acid (made only by the urea cycle).
Assay: Assessment of characteristics (as weight, measure, or quality).
Athetosis: Repeated slow movements especially of the arms and legs due to brain dysfunction.
Autosomal Recessive Inherited Disorder: Two copies of an abnormal gene inherited from both parents that is capable of producing disease, specifically on one of 22 pairs of autosomes (non-sex linked).
Autosomes: Any of the non-sex determining chromosomes.
Biochemical Pathways: Systems in the body for processing molecules for useful purposes.
Biopsy: The removal of blood, tissue, or cells from the body for examination.
Bouts: An episode, an intermittent occurrence of an abnormal condition.
Carrier: Individuals with one abnormal gene in their gene pair. These individuals do not show evidence of the disorder.
Chronic (or Chronically): A situation or disease with a long duration.
Citrulline: An amino acid not used in protein made by the urea cycle.
Cofactor: Interaction between two substances that to bring about changes.
Collagen: A basic component of connective tissue.
Coma: Unconsciousness.
Concentrations: The level or amount of a substance.
Connective Tissue: Tissue that surrounds other tissues and organs in the body.
Conversion: A change from one state to another.
Crisis: A negative change in the physical and/or mental well-being of a person.
CVS: A procedure used in the first trimester of pregnancy to diagnose genetic diseases.
Cytoplasm: Area of the cell that most of the chemical actions occur
Defects: An abnormality.
Deficiency: A lower amount than necessary for functioning.
Developmental Disabilities: A chronic mental or physical impairment that results in decreased ability of an individuals to reach appropriate age level developmental goals.
Disease: Deviation from a normal state of physical or mental health caused by the body’s response to the environment and/or infective substances.
Disorder: An abnormal physical or mental condition.
