deficiency in the newborn infant.
LUNAR-OTC: LUNAR-formulated ornithine transcarbamylase
(OTC) mRNA for the treatment of ornithine transcarbamylase
deficiency, the most common inherited urea cycle disorder in humans.
MS/MS has proven to be ineffective in reliably identifying deficiencies in the urea-cycle enzymes ornithine transcarbamylase
(OTC) and carbamyl phosphate synthetase (CPSI) through the quantitation of citrulline, though is considerably more useful when detecting elevations in this analyte in newborns with a deficiency in argininosuccinic acid synthetase (ASAS) or argininosuccinic acid lyase (ASAL).
He was suffering from a potentially fatal disease known as ornithine transcarbamylase
deficiency (OTD), which prevents the liver from breaking down protein.
Ethical concerns regarding gene therapy trials peaked in 1999, when Jesse Gelsinger, an 18-year-old patient with ornithine transcarbamylase
deficiency, died shortly after undergoing an investigational gene transfer procedure using an adenoviral vector.
The fact that carriers for various metabolic diseases such as early vascular disease in homocystinuria, hyperammonemic episodes in ornithine transcarbamylase
deficiency, presenile cataracts in galactosemia, and so forth (Endres 1997), as well as for AAT deficiency (Feld 1989; Gourley et al.
Gelsinger participated in a clinical trial designed to test a potential gene therapy for ornithine transcarbamylase
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
Ravicti[TM] (glycerol phenylbutyrate), an investigational drug formerly known as HPN-100, is a pre-pro-drug of phenylacetic acid, the active moiety of BUPHENYL([R]), the only branded therapy currently FDA-approved as adjunctive therapy for the chronic management of patients with urea cycle disorders due to deficiencies in carbamylphosphate synthetase (CPS), ornithine transcarbamylase
(OTC), and argininosuccinic acid synthetase (AS).
deficiency in adults has now been reported for multiple cases.