Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is one of the most common causes of GSDs, its biochemical and genetic diagnosis has been problematic d...

The clinical features of seven patients with non-ketotic hyperglycaemia who developed focal seizures are presented. All patients were alert except one who was mildly confused. Glucose values varied from 17.8 to 55.1 mmol/l, while calculated osmolarity values were elevated in all cases to a mild or moderate extent (299.1 to 346.5 mmol/l). In three cases diabetes mellitus was a new diagnosis. Fou...

Non-ketotic hyperglycemia is an unusual and rare cause of hemichorea-hemiballismus. Correction of the hyperglycemia usually results in total resolution of the signs and symptoms. We present the case and medical imaging findings of a 66-year-old female who presented with steadily worsening choreiform and ballistic movements of the right upper and lower extremities over a 2-week period. Her serum...

Diabetic patients during hyperglycaemic crises may present a rare syndrome characterised by a typical triad: unilateral involuntary movements (hemichoreahemiballism), radiological contralateral striatal abnormality, and rapid resolution of symptoms after glycae - mic correction. This study reports a series of patients showing less usual aspects and also discusses the pathophysiology of this cli...

We describe a patient who had consumed large quantities of a proprietary cough mixture containing diphenhydramine, ammonium chloride and sodium citrate (Benylin expectorant) daily for several months and subsequently presented with confusion, marked metabolic acidosis and non-ketotic hyperglycaemia.

In four healthy cows an elevation of ketone bodies was induced by reduction of feed intake. Two cows became clearly ketotic while the other two cows showed only slight increases in ketone body concentrations in serum and milk. Acetone concentrations in exhaled breath were measured by gas chromatography combined with mass spectrometry. These values were correlated with concentrations of serum be...

Habbick, B. F., McNeish, A. S., and Stephenson, J. B. P. (1971). Archives of Disease in Childhood, 46, 295. Diagnosis of ketotic hypoglycaemia of childhood. Twenty cases of ketotic hypoglycaemia have been diagnosed in one medical unit in the past 8 years. Typically the children were 'dysmature' at birth, with a history suggesting hypoglycaemia in the first 36 hours of life, and they have remain...