(J Pediatr 2001;138:S56-S61) The long-term treatment of patients with urea cycle disorders involves the use of a low-protein diet, supplementa- tion with certain amino acids, and ad- ministration of organic compounds to augment waste nitrogen excretion.1-8 Optimal care, however, necessitates the use of a comprehensive long-term management program that anticipates From the Divisions of Human Genetics and Molecular Biology and Endocrinology and Diabetes, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children’s Hospital of Philadelphia, Pennsylvania, and the Metabolic Clinic, Child Develop- ment and Rehabilitation Center, Doernbecher Chil- dren’s Hospital, Oregon Health Sciences University, Portland, Oregon.
The treatment must be tailored to the needs of the patient as reflected in the growth rate, plasma ammonia, and amino acid lev- els and ancillary tests such as blood counts and serum albumin.
These include poor growth, developmental delay, learning problems, speech disor- der, attention deficit hyperactivity dis- order, mental retardation, spasticity as in cerebral palsy, seizure disorder, and hepatomegaly with and without liver function test abnormalities.1,2,13,14 It is important to note that normal variant short stature such as genetic short stature and constitutional delay of growth and puberty may also occur in patients with UCDs.
After the hyperammonemia is cor- rected or the disease process is stabi- lized, all of the sequelae such as learning problems, speech defect, cere- bral palsy, and seizure disorders will need to be treated, as with any child without a UCD.
Parents are to be instructed in the signs and symptoms of hyperam- monemia such as anorexia, vomiting, al- tered behavior, headache, visual distur- bances, ataxia, lethargy, and seizures that may indicate acute hyperammone- mia.