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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...
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Ornithine transcarbamylase (OTC) (also
called ornithine carbamoyltransferase) is an
enzyme (EC 2.1.3.3) that
catalyzes the
reaction between carbamoyl phosphate...
- translation.
Ornithine is
abnormally ac****ulated in the body in
ornithine transcarbamylase deficiency, a
disorder of the urea cycle. The
moiety derived from ornithine...
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clinical trial for gene therapy.
Gelsinger suffered from
ornithine transcarbamylase deficiency, an X-linked
genetic disease of the liver, the symptoms...
- the
enzymes in the urea cycle. The most
common example is
ornithine transcarbamylase deficiency,
which is
inherited in an X-linked fashion.
Secondary hyperammonemia...
-
antidiuretic hormone.
Another rare
cause of a
decreased BUN is
ornithine transcarbamylase deficiency,
which is a
genetic disorder inherited in an X-linked recessive...
-
therapeutics for the
treatment of rare
diseases such as
ornithine transcarbamylase deficiency, and
respiratory diseases such as
cystic fibrosis. As of...
-
reacts with
ornithine (a
process catalyzed by the
enzyme ornithine transcarbamylase) to form citrulline.
Carbamoyl phosphate is a
metabolic intermediate...
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carbamoyltransferase (EC 2.1.3.11,
succinylornithine transcarbamylase, N-succinyl-L-ornithine
transcarbamylase, SOTCase) is an
enzyme with
systematic name carbamoyl...
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defects in the
enzymes responsible for the urea cycle, such as
ornithine transcarbamylase, lead to hyperammonemia.
Hyperammonemia contributes to the confusion...
