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Term Definition
MRI (magnetic resonance imaging)

A diagnostic radiology technique that uses magnetism, radiowaves, and a computer to produce images of body structures.

Mutation

An unusual change in genetic material occurring spontaneously or by induction, which changes the original expression (function or purpose) of the gene.

N-acetylglutamate

A coenzyme that assists in processing the first step of the urea cycle and activates carbamoyl phosphate synthetase 1.

Nasogastric (NG) tube

A flexible tube that is passed through the nose and down through the nasopharynx and esophagus into the stomach. It can be used to remove the contents of the stomach, including air, small objects and fluid. It can also be used to place contents into the stomach, such as nutrients.

Neonatal-onset disorder

Severe, catastrophic disorder with life-threatening symptoms occurring in the neonatal period resulting from null/zero enzyme mutations or severely impaired enzyme activity.

Neutropenia

An abnormal decrease in the number of neutrophils in the blood.

NICU (Neonatal Intensive Care Unit)

A specialized department in a hospital that provides intensive-care medicine to newborns.

Night terrors

Night terrors are episodes of fear, flailing and screaming while asleep. Night terrors often are paired with sleepwalking.

Nitrogen

An atmospheric gas that forms many compounds in the body (such as proteins) and is a component of all living cells.

Non-verbal learning disability

A disorder characterized by high verbal skills but experiences challenges with processing non-verbal information.

Obsessive compulsive disorder (OCD)

Anxiety disorder consisting of obsessions (repeated, upsetting, unwanted thoughts) and compulsions (repeated activities that bring no pleasure and are not productive, but are meant to make the unwanted thoughts go away)

Odd Chain Fatty Acid

fatty acids with an odd number of carbon atoms.

Oppositional defiant disorder

A compulsive pattern of disobedient, hostile, & defiant behaviors towards authority figures.

Oral medication

Medication taken by mouth.

Organic Acidemia

Inherited disorders of amino acid catabolism in which toxic substances are produced as a result of an enzymatic blockage.

Ornithine

Functions in the urea cycle and acts to change citrulline to arginine.

Ornithine transcarbamylase deficiency

Also called OTC deficiency. A urea cycle disorder resulting from an enzyme deficiency of ornithine transcarbamylase.

Partial Activity

Not completely active, may be missing vital components.

PCV (pneumococcal conjugate) vaccine

An immunization that protects against a type of bacteria that is a common cause of pneumonia and ear infections. This type of bacteria can also cause more serious illnesses, such as meningitis and bacteremia (infection in the blood stream). Infants and toddlers are given 4 doses of the vaccine. The vaccine may also be used in older children who are at risk for pneumococcal infection.

Pervasive Developmental Disorder (PDD)

Refers to a group of disorders characterized by delays in the development of socialization and communication skills, including Asperger's, Rett's and Autism among others.

Phenotype

The complete observable characteristics of a group, including anatomical, physiologic, biochemical traits as determined by genetic makeup.

Phenylacetylglutamine

Normally formed from phenylacetate and glutamine and excreted in the urine.

Plasma

Liquid part of the blood in which blood cells are suspended.

Prenatal

Before birth.

Proband

An individual with a particular disorder who causes a study of his hereditary and genetic factors to determine if other members of the family have the same disease or carry it.

Protein

Essential to all living cells, simplified by body processes to simple alpha-amino acids. Twenty different amino acids are commonly found in proteins and each protein has a unique, genetically defined amino acid sequence which determines its specific shape and function.

Proximal

Nearest to the point of reference.

Quantitative Plasma Amino Acids

Blood test done to measure levels of all amino acids individually.

Rapid Onset

Beginning quickly without warning.

Red blood cells

A type of cell in the body that carries oxygen to the body

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