He was diagnosed with idiopathic proximal urea cycle defect
But Billy became the first boy in the world to survive a urea cycle defect
after having a pioneering operation when he was a week old.
The incidence of urea cycle defect
ranges from 1 in 25,000 to 1 in 35,000.
After completeing his residency, Mark worked with a 13-year-old child who he discovered had urea cycle defect
(an inborn error in metabolism).
Women who are carriers of the urea cycle defect
are at risk for developing hyperammonaemia during the postpartum period.
Billy, who is no waged seven months, was born with a metabolic condition kno wn as urea cycle defect
Billy, now seven months old, was born with urea cycle defect
It includes Criggler Najjar syndrome (CNS), urea cycle defects
and familial hypercholesterolaemia.
Acute encephalopathy due to hyperammonemia, is observed in urea cycle defects
and many organic acidemias.
The differential diagnosis of hyperammonemia in the pediatric population includes transient hyperammonemia of the neonate and a large number of IEMs, including organicacidopathies, urea cycle defects
, congenital lactic acidosis, and some aminoacidopathies (2).
By far the most common of the urea cycle defects
is the X-linked recessive disorder, ornithine transcarbamylase deficiency (OTC).
The 119 patients suffered from three main categories of IEM, namely; amino acids and urea cycle defects
, organic acid disorders, and fatty acid oxidation disorders.