Ornithine Transcarbamylase Deficiency Treatment & Management
- Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD more...
Immediate temporary discontinuation of protein intake in a symptomatic individual with ornithine transcarbamylase (OTC) deficiency is mandatory, with compensatory increases in carbohydrates and lipids in order to offset any catabolic tendency to draw on muscle amino acids for energy.
In a patient who is comatose with extremely high blood ammonia levels (in some cases exceeding 2000 mg/dL), rapid reduction can be achieved with hemodialysis.
Intravenous administration of sodium benzoate, arginine, and sodium phenylacetate is important; however, only administer these drugs in a large medical facility setting with close laboratory monitoring available. Intravenous sodium benzoate and phenylacetate (Ammonul) was approved in the United States in February 2005.
Glycerol phenylbutyrate is a pre-prodrug that undergoes metabolism to form phenylacetate. Results of a phase 3 study comparing ammonia control in adults showed glycerol phenylbutyrate was noninferior to sodium phenylbutyrate. In a separate study involving young children ages 2 months through 5 years, glycerol phenylbutyrate resulted in a more evenly distributed urinary output of phenylacetylglutamine (PAGN) over 24 hours and accounted for fewer symptoms from accumulation of phenylacetate.
A biochemical geneticist and a highly trained nutritionist should administer long-term outpatient care in a large facility setting with laboratory monitoring available.
Consultations include the following:
Metabolic disease specialist
Immediate temporary discontinuation of protein intake in a symptomatic individual is mandatory, with compensatory increases in carbohydrates and lipids in order to offset any catabolic tendency to draw on muscle amino acids for energy.
A highly trained nutritionist should administer long-term outpatient care in a large facility setting with laboratory monitoring available.
Scrupulous adherence to the dietary and medication recommendations is mandatory for survival.
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