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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.
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All urea cycle defects, except OTC deficiency, are inherited in an autosomal recessive manner. 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 ...
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Continuous renal replacement therapy (CRRT) is a remarkably effective mode of therapy in neonatal hyperammonemia, particularly in severe cases of Urea cycle defects like Ornithine transcarbamoylase (OTC) deficiency. Multidisciplinary team (MDT) collaboration is required to optimize this advanced treatment.
As his deficiency was partial, Gelsinger managed to survive on a restricted diet and special medications. Gelsinger joined a clinical trial run by the University of Pennsylvania that aimed at developing a treatment for infants born with the severe form of the disease.
In 2019, a drug named ARCT-810 which uses Lunar, received FDA orphan drug status for treating ornithine transcarbamylase deficiency. [17] The orphan drug designation is granted to drugs capable of treating rare diseases that affect less than 200,000 people in the United States, and grants seven years of marketing exclusivity after approval. [ 18 ]
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