Steiner R D, Cederbaum S D
Metabolic Clinic, Child Development and Rehabilitation Center, Doernbecher Children's Hospital, Oregon Health Sciences University, Portland, Oregon 97201, USA.
J Pediatr. 2001 Jan;138(1 Suppl):S21-9. doi: 10.1067/mpd.2001.111833.
The urea cycle disorders (UCDs) represent a group of inherited metabolic diseases with hyperammonemia as the primary laboratory abnormality. Affected individuals may become comatose or die if not treated rapidly. Diagnosis of a UCD requires a high index of suspicion and judicious use of the laboratory. It is important to rule out other conditions causing hyperammonemia that may require different treatment. The astute clinician may suspect a specific UCD in the appropriate clinical setting, but only laboratory results can confirm a specific diagnosis. The importance of the laboratory in helping the clinician to differentiate among various causes of hyperammonemia, in confirming a specific UCD, in carrier testing, and in prenatal diagnostic testing is highlighted in this review.
