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Inborn Errors of Metabolism
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Surekha Pendyal, Areeg Hassan El-Gharbawy
The pathophysiology of UCDs is attributed to the toxic accumulation of ammonia and glutamine in the brain causing astrocyte swelling, brain edema, and neuronal dysfunction. Medical interventions to treat UCDs employ a protein-restricted diet and include use of ammonia scavengers such as sodium benzoate and sodium or glycerol phenylbutyrate and individual amino acids (citrulline in CPS and OTC deficiency; arginine in ASS and ASL deficiency) for continuation of the urea cycle. Hemodialysis, intravenous ammonia scavengers (sodium benzoate plus sodium acetate, i.e., Ammunol) and intravenous arginine are used when indicated to resolve an acute hyperammonemic crisis. Liver transplantation successfully cures the hyperammonemia in UCDs. It is recommended in patients with severe disease that is difficult to manage.
Introduction to hyperammonemia and disorders of the urea cycle
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The infant or child usually requires a combination of pharmacologic therapy and restriction of the intake of protein. Arginine is employed in doses of 0.1–0.2 g/kg, 0.2–0.3 g/kg or even higher in citrullinemia type 1 or argininosuccinic aciduria. In OTCD and CPSD, sodium benzoate is given in doses of 0.25(–0.5) g/kg/day, and citrulline, which is more palatable than arginine, is employed as a source of ornithine in a dose of 0.17–0.25 g/kg. Oral sodium phenylbutyrate has been employed as a source of phenylacetate in doses of 0.25 g/kg. It may be used as a substitute for benzoate, but many of our patients have found it unpalatable. A gastrostomy may be required. Glycerol phenylbutyrate (RAVICTI) has the same mechanism of action as sodium phenylbutyrate, but is a sodium- and sugar-free prepro-drug of phenylacetic acid that has little odor or taste. Also, phenylbutyrate may deplete branched chain amino acids levels and cause menstrual dysfunction/amenorrhea in up to 25% of post-pubertal females [9]. To avoid complications, e.g. mucositis or gastritis, sodium benzoate and sodium phenylbutyrate should be administered several times daily during meals with abundant fluids [9]. Acute toxicity of benzoate and phenylbutyrate has been rare, but severe overdoses (2 to 10 times recommended) have led to symptoms that may be clinically mistaken for hyperammonemic episodes, including lethargy, hyperventilation, metabolic acidosis, cardiopulmonary collapse, and death [18].
Health care resource utilization in the management of patients with Arginase 1 Deficiency in the US: a retrospective, observational, claims database study
Published in Journal of Medical Economics, 2022
Aseel Bin Sawad, John Jackimiec, Mark Bechter, Michael Hull, Jason Yeaw, Yi Wang, George A. Diaz
Inpatient and outpatient visits are frequently needed to manage serious medical conditions. In the post-index period, around 20% of the patients had the linkage to hospital data (i.e. three patients in the disease cohort and one in the comparator cohort with an inpatient stay). Patients with ARG1-D were hospitalized nearly 3 times more often and the mean length of stay was longer compared with patients without ARG1-D, although this trend was not statistically significant. The proportion of patients with emergency room visits in the ARG1-D cohort was nearly double that for patients without ARG1-D (p < .05). Laboratory/pathology claims were 1.5 times more frequent with ARG1-D cohort (p < .01) (Table 3). Utilization of ammonia scavengers, including glycerol phenylbutyrate, sodium phenylbutyrate, or sodium benzoate/sodium phenylacetate were reported in a small percentage of ARG1-D patients post-index (Table 3). There was no trend suggesting use of any one medication class in the comparator group.
Hyperammonemia in the setting of Roux-en-Y gastric bypass presenting with osmotic demyelination syndrome
Published in Journal of Community Hospital Internal Medicine Perspectives, 2021
Carly Rosenberg, Michael Rhodes
In regard to the treatment of hyperammonemia, lactulose, rifaximin and hemodialysis are common modalities used to lower ammonia levels, as were used in our patient. However, alternate forms of treatment are available. A recent study by Alimirah et al. [12] demonstrated the use of novel therapies for hyperammonemia in the setting of hepatic encephalopathy. These included L-ornithine phenylacetate and glycerol phenylbutyrate, both of which are ammonia-scavenging agents used to improve cognition by decreasing ammonia levels. L-ornithine acts as a substrate for glutamine synthetase, while phenylacetate acts to excrete ornithine-related glutamine as phenylacetylglutamine in the kidneys [13]. Glycerol phenylbutyrate is converted into phenylacetate that conjugates with glutamine to form phenylacetylglutamine, which provides as an alternative form of nitrogen waste excretion [5]. For patients specifically with urea cycle disorders, nitrogen scavengers such as sodium benzoate and arginine are administered for excretion of ammonia [11].
Pharmacological management of portal hypertension and its complications in children: lessons from adults and opportunities for the future
Published in Expert Opinion on Pharmacotherapy, 2021
Sarah Henkel, Carol Vetterly, Robert Squires, Patrick McKiernan, James Squires
Sodium phenylbutyrate, which decreases ammonia production via a similar mechanism as sodium benzoate, has been trialed in the intensive care unit setting to decrease hepatic encephalopathy. In a French study, adult patients treated with sodium phenylbutyrate did have rapidly decreased ammonia levels, neurologic improvement at ICU discharge, and increased ICU discharge survival compared to controls [107]. A related compound, glycerol phenylbutyrate, has been recently approved and is effectively used for children with urea cycle disorders [108].