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Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase , the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle , responsible for converting carbamoyl phosphate and ornithine into citrulline .
Ornithine transcarbamylase (OTC) (also called ornithine carbamoyltransferase) is an enzyme (EC 2.1.3.3) that catalyzes the reaction between carbamoyl phosphate (CP) and ornithine (Orn) to form citrulline (Cit) and phosphate (P i). There are two classes of OTC: anabolic and catabolic.
ZAP-70 deficiency Zeta-associated-protein 70 deficiency ZBLS Zadik–Barak–Levin syndrome: ZES Zollinger–Ellison syndrome: ZLS Zimmermann–Laband syndrome: ZS Zellweger syndrome: ZSD Zellweger spectrum disorders: ZSS Zellweger syndrome spectrum ZTTK syndrome Zhu–Tokita–Takenouchi–Kim syndrome
The first published English grammar was a Pamphlet for Grammar of 1586, written by William Bullokar with the stated goal of demonstrating that English was just as rule-based as Latin. Bullokar's grammar was faithfully modeled on William Lily's Latin grammar, Rudimenta Grammatices (1534), used in English schools at that time, having been ...
The UpToDate system is an evidence-based clinical resource. It includes a collection of medical and patient information, access to Lexicomp drug monographs and drug-to-drug interactions, and a number of medical calculators. UpToDate is written by over 7,100 physician authors, editors, and peer reviewers. It is available both via the Internet ...
In OTC deficiency, hyperammonemia and decreased BUN are seen because the urea cycle is not functioning properly, but megaloblastic anemia will not occur because pyrimidine synthesis is not affected. [7] In orotic aciduria, the urea cycle is not affected. [citation needed] Orotic aciduria can be diagnosed through genetic sequencing of the UMPS ...
Meaning o: Nothing [ō—letter o with overbar] O 2: oxygen: OA: osteoarthritis: OAB: Overactive bladder: OAF: osteoclast activating factor OB: Occult blood OB OB-GYN ob-gyne: obstetrics and gynecology: Obl: oblique OBS: organic brain syndrome: Occ: occasional OCD: obsessive-compulsive disorder: OCG: oral cholecystogram: OCNA: Orthopedic ...
In medicine, a deficiency is a lack or shortage of a functional entity, by less than normal or necessary supply or function. A person can have chromosomal deficiencies, mental deficiencies, nutritional deficiencies, complement deficiencies, or enzyme deficiencies.