Urea Cycle Disorder Studies
Inborn errors of Urea Synthesis are rare and belong to the larger group
of disorders of amino acid metabolism, which are genetically determined
and caused by enzyme defects. The most well known disorder in the larger
group is phenylketonuria (PKU), characterized by an accumulation of the
amino acid phenylalanine, which frequently results in mental and psychomotor
retardation, if not treated. The disorders of inborn errors of Urea Synthesis
are less known, but are life threatening conditions associated with hyperammonemia
or high plasma glutamine levels, often resulting in coma and death in
infants, if not treated immediately.
Since 1987 Sodium Phenylbutyrate (generic name), has been the treatment
of choice for these diseases, recommended at a dosage of 450 to 500 mg/kg
bodyweight per day. Approximately 1500 children worldwide are alive today
and well because of Sodium Phenylbutyrate.
EXTENSIVE TOXICOLOGY DATA derived from 15 years of continuous use and
treatment at these dosage levels on these infants and children have proven
Sodium Phenylbutyrate to be SAFE, EFFICACIOUS and with NO HARMFUL SIDE
EFFECTS, even at the high dosage given over their individual lifetime.
Toxicity starts appearing only at levels five to ten times larger than
the commonly used dosages today for this disease, or at levels of 3g/kg
bodyweight/day (approximately 200g/adult/day).
Natural Body Substance
Although Sodium Phenylbutyrate is synthetically manufactured, once in
the body it is quickly metabolized to a naturally occurring metabolite
of phenylalanine. The fact that Sodium Phenylbutyrate is converted to
a natural body substance is considered to be one of the main reasons for
its low toxicity.
Copies of clinical trials are available upon
request for doctors and medical researchers.