Urea cycle disorder is a congenital abnormality or absence of one of the six enzymes involved in the elimination of ammonia. Administration of certain medications, high protein diet, excessive exercise, surgical procedures, or trauma can precipitate symptoms of mental confusion, seizure-like activity,...
Living with a urea cycle disorder (UCD) can be challenging. Learn more about the urea cycle, managing ammonia levels, and common symptoms. See Safety.
ACER-001 is a taste-masked, immediate-release formulation of sodium phenylbutyrate (NaPB) developed using a microencapsulation process. NaPB has been found to help control blood ammonia levels in conjunction with a restricted diet for people with a urea cycle disorder (UCD). However, adherence to...
If you are a parent or a caretaker of a child with a urea cycle disorder (UCD), you may have many questions on how to best manage their disease. Nutrition, activity, medicine and treatment are all important factors. Here is some information that can help make your role a little easier ...
A genetic disorder caused by a deficiency of Argininosuccinate lyase (ASL), leading to the accumulation of ammonia and arginosuccinate. Incidence of ASL Deficiency 1 in 70,000-218,000. Symptoms of ASL Deficiency Includes developmental delay, seizures, chronic hepatopathy, and less prone to hyperamm...
Urea Cycle Disorder affects how the body breaks down protein from foods. Find out how to manage ammonia levels and make lifestyle changes.
Initially, infants with a urea cycle disorder are born without disease symptoms. However, a rapid deterioration occurs with acute onset of cerebral edema, lethargy, seizures, neurologic posturing, hyper- or hypoventilation, coma, and potentially death. In persons with partial enzyme deficiencies, a ...
namely N-acetylglutamate synthase (NAGS), carbamyl phosphate synthetase I (CPS-I), ornithine transcarbamylase (OTC), argininosuccinate synthetase (AS), argininosuccinate lyase (AL), and arginase (ARG), and a deficiency in any one of the enzymes causes a urea cycle disorder (UCD) in humans [...
(citrullinemia); FSIQ, full scale intelligence quotient; ID, intellectual disabil- ity; IQ, intelligence quotient; LO, late onset; NO, neonatal onset; OTC, ornithine transcarbamylase; UCD, urea cycle disorder 96 COGNITION IN UREA CYCLE DISORDERS 97 The mainstay of pharmacological therapy (6,13...
FIG. 2 shows mean blood ammonia over 24-h after treatment with NaPBA or HPN-100 (ITT Population). HPN-100=glycerol phenylbutyrate; ITT=intent-to-treat; NaPBA=sodium phenylbutyrate; SE=standard error; UCD=urea cycle disorder; ULN=upper limit of normal. ...