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Background: The hyperinsulinism/hyperammonaemia (HI/HA) syndrome is the second most common cause of hyperinsulinaemic hypoglycaemia, caused by activating mutations in GLUD1. In this article, we report a series of three unrelated patients with HI/HA syndrome who demonstrated variable phenotypes, ranging from delayed presentation to spontaneous resolution of hypoglycaemia, thereby expanding the current knowledge and understanding of GLUD1 mutations. Case presentation: This paper is a retrospective analysis of patients with HI/HA syndrome who demonstrated a variable disease course. Patient 1 presented with hypoglycaemic seizures at the age of 7 months and was diagnosed with HI/HA syndrome. Patient 2, a 5-year-old boy, on anti-convulsants since 8 months of age, was diagnosed with HI/HA at the age of 4 years. Patient 3, an 11-year-old girl with a history of transient neonatal hypoglycaemia, was diagnosed with HI/HA at the age of 12 months following evaluation for absence seizures. Patients 1 and 2 had raised ammonia levels, whilst patient 3 had normal ammonia level. The genetic analysis in all three patients confirmed GLUD1 mutation. Good glycaemic control was observed in all following diazoxide treatment. All patients have learning difficulties. Patient 1 demonstrated spontaneous resolution of hypoglycaemia at the age of 8 years, enabling discontinuation of diazoxide. Conclusions: The cases highlight the diagnostic challenges in HI/HA syndrome due to a highly variable presentation. Knowledge of variable phenotypes would enable early diagnosis, thereby decreasing the risk of long-term neurological damage. Spontaneous resolution of hyperinsulinism could occur, and it is important to consider a trial off diazoxide therapy especially if the patients are on a small dose of diazoxide. [ABSTRACT FROM AUTHOR]

The present study provides insight into the dissolution behavior of renewable materials in ionic liquids. Beech, spruce and rye straw were dissolved in 1-ethyl-3-methylimidazolium acetate as the ionic liquid of choice, which is currently one of the most frequently used cation-anion combinations among ionic liquids for biomaterial processing. The dissolution was followed by selective precipitation of cellulose, hemicelluloses, and lignin. The obtained lignin was analyzed with Curie-point pyrolysis gas chromatography/mass spectrometry (Cu-Py-GC/MS) and the separated cellulose/hemicellulose fractions with gel permeation chromatography (GPC). Time dependence of the dissolution process was studied on rye straw, eucalyptus kraft pulp and beech sulfite pulp. The results show a changing dissolution profile over time, which is due to progressing degradation of the cellulose in the ionic liquid. [ABSTRACT FROM AUTHOR]