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Term Definition
Trichorrhexis Nodosa

A node-like appearance of fragile hair.

Triggering Event

An episode that causes a reaction or illness.


Found in blood and lymph, urea is the primary nitrogenous end-product of protein metabolism, formed in the liver from amino acids and from ammonia compounds. Because urea contains ammonia which is toxic to the body, it must be quickly filtered from the blood by the kidneys, where it is excreted in the urine.

Urea Cycle

A metabolic process in which waste (nitrogen) from the breakdown of proteins in the body is changed by the urea cycle enzymes in the liver into urea in the bloodstream. The blood is then cleansed by the kidneys and ammonia is excreted in the urine.

Urea cycle disorder

A disorder caused by a genetic mutation resulting in deficiency of one of the six enzymes in the urea cycle, located in the liver, responsible for detoxifying ammonia.


The transformation of proteins to a urea compound that can be excreted in the urine.


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


A retrovirus (retroviruses are a class of RNA viruses that are capable of converting their RNA into DNA, and integrating into the host genome) or adenovirus (carrier of common viruses) that has had its own genetic material modified or removed and replaced by other genes (like those that contain instructions to make OTC enzyme). The vector can them be introduced into a patient who suffers from an enzyme deficiency, carrying the new needed genetic material into that individual.


Unusable or excess material, lost by breaking down of the body


A sex chromosome in both males and females (males have one X-chromosome and one Y chromosome, XY=male, and females have two X-chromosomes, XX=female).

X-linked disorder

A disorder occurring when an individual receives an affected X chromosome (carrying the disorder) from the mother.

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