By far the most common of the urea cycle defects is the X-linked recessive disorder, ornithine transcarbamylase deficiency (OTC).
What does OTCD stand for?
OTCD stands for Ornithine Transcarbamylase Deficiency
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Samples in periodicals archive:
The metabolic diseases are divided into those associated with structural damage to the liver (Wilson's, alpha-1 antitrypsin) and those in which the liver is structurally normal and LT is required to replace a life-threatening enzyme deficiency (Crigler-Najjar syndrome, ornithine transcarbamylase deficiency, or hyperoxaluria type 1).
Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.
Balancing the Promise With the Reality On September 17, 1999, four days after receiving a gene therapy infusion at the University of Pennsylvania, a young man from Arizona who had a genetic disease known as Ornithine Transcarbamylase Deficiency (OTC) died.
Gelsinger, who died on September 17, suffered a fatal immune reaction while participating in a study of the safety of a treatment for ornithine transcarbamylase deficiency, a hereditary liver disorder that, in Gelsinger's case, was not life-threatening and was controlled with medication.
Richard was struck down by an undiagnosed metabolic disease, known as Late Onset Ornithine Transcarbamylase Deficiency (LOOTD).
Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.