Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia
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2014, Pediatric Endocrinology: Fourth EditionAmmonia metabolism and hyperammonemic disorders
2014, Advances in Clinical ChemistryCitation Excerpt :This is not associated with the typical clinical features of HA, but the incidence of seizures, particularly absence attacks, is higher than in other hypoglycemic or hyperammonemic disorders [215,216]. Plasma glutamine is normal or slightly raised [213,215,216], with a low ratio of glutamine to ammonia [217]. HA has been attributed to increased oxidation of glutamate in the liver, together with impaired urea cycle activity due to decreased production of NAG [215].
Intractable absence seizures in hyperinsulinism-hyperammonemia syndrome
2012, Pediatric NeurologyOn the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome
2010, Advances in Enzyme RegulationCitation Excerpt :These children were also found to exhibit hyperammonemia; their blood ammonia levels were some two-to five-fold above normal values. The hyperammonemia was continuous, rather than periodic; indeed, some patients do not show increased ammonemia in response to dietary protein (Huijmans et al., 2000; Zammarchi et al., 1996). Interestingly, many of these patients display few, if any, neurological manifestations of hyperammonemia (Stanley, 2004).