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Term Definition

A condition marked by an abnormal increase in muscle tension and a reduced ability of a muscle to stretch, caused by disease, or conditions such as dystonia (prolonged muscle contractions that cause twisting and repetitive movements or abnormal posture), rigidity, or a combination of factors. Severe cases can also make joint movement impossible.

Hypoglycemia, unrelated to diabetes: A condition, also known as low blood sugar, in which blood glucose drops below normal levels in someone who does not have diabetes. The first type is known as reactive hypoglycemia in which symptoms occur within 4 hou

A condition characterized by below normal or absent reflexes and generally associated with a lower motor neuron deficit.


Abnormally low body temperature below 95 degrees F, causing heart and respiration slowing and paleness.


Insufficient production of the thyroid hormone by the thyroid gland.


A disorder that occurs when the thyroid gland does not produce enough thyroid hormone, causing sensitivity to cold temperatures, depression, fatigue, constipation, joint or muscle pain, unintentional weight gain, and eventual slow speech, hoarseness, and decrease in taste and smell.

Hypotonia (low tone)

A condition in which there is diminution or loss of muscular tonicity, resulting in stretching of the muscles beyond their normal limits. Decreased muscle tone that may be a sign of a problem the brain, spinal cord, nerves, or muscles. Infants with hypotonia seem floppy and feel like a "rag doll" when held.


A personality trait characterized by the inclination of an individual to initiate behavior without adequate forethought as to the consequences of their actions, referred to as "acting on the spur of the moment." While it a normal behavior which contributes to adaptive functioning, abnormal patterns of impulsivity may be related to neurodegenerative diseases, traumatic brain injury, or neuropsychiatric disorders such as ADHD, substance abuse disorders, and bipolar disorder.

In vivo

Occurring in a living organism. In vivo experiments are therefore performed on living organisms.

Inborn error of metabolism

Genetic disorders in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality in the body

Intellectual Development

The ability to gain knowledge.

Intellectual disability

A disability (sometimes referred to as cognitive disabilities or mental retardation) in which a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. Children with intellectual disabilities learn and develop more slowly than a typical child and may take longer to speak, walk, and learn to take care of their personal needs such as dressing or eating.


Within the cell, produces energy for the cell.

Intravenous (IV): Delivered into the body through a needle or tube inserted into a vein, which allows immediate access to the blood supply.

A branched chain essential amino acid found in proteins. One of the restricted amino acids for patients with propionic acidemia.

Ketone or Ketone Bodies

A ketone is an intermediate product of the breakdown of fats in the body; any of three compounds (acetoacetic acid, acetone, and/or beta-hydroxybutyric acid) found in excess in blood and urine of persons with metabolic disorders. Ketones are used as a measure of metabolic instability in patients with propionic acidemia.


A pathological increase in the production of ketone bodies. Ketosis is a stage in metabolism occurring when the liver has been depleted of stored glycogen and switches to a fasting mode such as occurs during sleep, during dieting, and during the body's response to starvation. In propionic acidemia, a measure of metabolic instability.

Late-onset disorder

Characterized by mild, moderate or severe symptoms (occurring anytime after the neonatal period) in early or late childhood resulting from mutations allowing varying degrees of partial enzyme activity. Also sometimes referred to as




A large vascular organ in the body that causes important changes in substances in the body in order for the body to use these substances.

Low blood pressure

A condition in which blood pressure during and after each heartbeat is much lower than usual, preventing the heart, brain, and other parts of the body from getting enough blood. Also known as hypotension.


An essential amino acid.

Metabolic Acidosis

Decreased pH and bicarbonate concentration of the body fluids caused either by the accumulation of excess acids stronger than carbonic acid or by abnormal losses of bicarbonate from the body. A metabolic derangement of acid-base balance where the blood pH is abnormally low.

Metabolic Pathway

The sequence by which the chemical changes in living cells provide energy for vital processes in the body.


Any substance produced by metabolic action or necessary for metabolic process. In UCDs and PA, certain metabolites can reach toxic levels, others can be abnormally low.


Amino acid found in most proteins and essential for nutrition. Restricted amino acid for patients with propionic acidemia.

Mitochondrial Disorder

Mitochondria, located in the cells, convert oxygen and food into energy. A mitochondrial disorder occurs when this conversion doesn't work properly and can damage or kill blood cells, resulting in systems shutting down. Primary onset in childhood, also sometimes in adults.

MMR (measles, mumps, rubella) vaccine

A vaccination that protects against the measles, mumps and rubella. It is often given to children before they begin school.


A combination of tiny, invisible particles in the body that are bonded together.


When different cells in the same organ or tissue have different genetic make up. For example, some cells carrying a mutation in the OTC gene, while other cells do not.

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