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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.
OTC deficiency is inherited as an X-linked recessive disorder, although some females can show symptoms. Most urea cycle disorders are associated with hyperammonemia , however argininemia and some forms of argininosuccinic aciduria do not present with elevated ammonia.
Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]
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 ...
Roman Reigns, a professional wrestler whose nickname is "The OTC" Brands and enterprises. Oliver Typewriter Company, a former US company;
OTC counseling requires an assessment of the patient's self-care concerns and drug-related needs. The types of drugs that are involved in OTC counseling are, for example, used to treat self-diagnosable conditions like heartburn, cough, and rashes, though prescription drugs and professional diagnoses are also relevant to the recommendation ...
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting.
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