ABSTRACT
Severe transient hyperammonemia is a disorder of unknown etiology which can be successfully
treated. This article describes two infants affected by this condition and reviews
the pertinent literature.
Forty-nine cases, including our own, are summarized. Large prematures (mean birthweight
2534 ± 738 gm, gestational age 36.1 ± 4.05 weeks) and infant males most commonly were
affected. The peak plasma ammonium concentration did not discriminate between infants
who lived and those who died, underscoring the need for aggressive therapy regardless
of the initial plasma ammonium concentration. Abnormal liver enzymes were reported
in seven cases. Most of these infants were asphyxiated at birth. Exchange transfusions
(ET), alone or in combination with peritoneal dialysis, was the most common form of
therapy. Of the infants treated with this therapy, 83% survived. Sixty-six percent
of the survivors, for which data are available, were normal on follow-up examination.
It is not known at present to what extent the associated peritoneal asphyxia was responsible
for the observed neurologic sequelae. Increased awareness of this condition and the
choice of hemodialysis as a form of therapy may further reduce both morbidity and
mortality.
