Unmasked Adult-Onset Urea Cycle Disorders in the Critical Care Setting

Barriers to Transplantation in Adults with Inborn Errors of Metabolism

“…Importantly, the IEM literature suggests that earlier transplantation results in improved neurologic outcomes in patients with urea cycle defects (McBride (Mazariegos et al 2012), and some lysosomal storage diseases (Wynn et al 2009). Finally, the burden of comorbid disease which may precipitate metabolic decompensation is higher in adults than in children (Summar et al 2005;Lang 2009). These data suggest that severity of symptoms, rather than age of symptom onset, should be the main factor in considering transplantation.…”

Hyperammonemia in uncontrolled Type2 Diabetes Mellitus

“…Many mechanisms plays role in increased ammonia production. The metabolism of proteins increases blood ammonia levels and can be seen with total parenteral nutrition, GI hemorrhage, steroid use [7][8][9][10] . Insulin has a global effect on protein metabolism, increasing the rate of protein synthesis and decreasing the rate of protein degradation.…”

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids

“…These stressors include high-protein intake either from a dietary load or total parenteral nutrition (TPN); increased endogenous protein catabolism due to reduced nutritional intake, infection, trauma or steroid administration; and hepatic toxicity from chemotherapy and other medications, such as valproic acid and haloperidol. 2,4,5,6 A number of reports have described hyperammonemic encephalopathy in OTC mutation carriers in the immediate postpartum period, when maternal nitrogen burden is increased by collagen breakdown during uterine involution. 1,3 In contrast, there are few reports of women with urea cycle enzyme deficiencies developing hyperammonemic coma during pregnancy.…”

“…She was incorrectly diagnosed with 'steroid psychosis' and lapsed into coma before metabolic encephalopathy was suspected, and her serum ammonia level was found to be markedly elevated. 2 Another was a 36-year-old male who was prescribed oral prednisone for an autoimmune disorder and subsequently developed hyperammonemic encephalopathy. 8 No cases have been previously published describing hyperammonemia following the administration of antenatal corticosteroids.…”

“…The ammonia scavengers, sodium phenylbutyrate, sodium benzoate and L-arginine, may be employed to stimulate further removal by alternate pathways. 1,2,5 Further management strategies include administration of intravenous fluids containing dextrose to decrease catabolism, serial serum ammonium evaluations and proactive use of ammonia scavengers. Complete avoidance of protein should not exceed 24 to 48 h, after which depletion of essential amino acids results in a catabolic state and endogenous nitrogen production.…”