Urea Cycle Disorders

When our bodies metabolize protein, one waste product is nitrogen. Normally this excess nitrogen is converted to urea and is excreted in urine. When a person has a urea cycle disorder their body is missing enzymes that remove nitrogen (as urea) from the bloodstream. When nitrogen is not excreted, it can build up in the bloodstream in the form of ammonia. This buildup of ammonia can be highly toxic if the ammonia is not removed.

There are also two enzyme transporter deficiencies, which are often considered UCDs:

HHH Syndrome, also called ORNT deficiency (ornithine translocase)
CTLN2 deficiency, also known as citrullinemia type II (citrin)

Below are resources on each disease for physicians, educators, and families. Resources may include, acute illness protocols, specific nutrition, and links for outside resources such as support groups and transition in care.