1/7. Fructose and glucagon loading in siblings with fructose-1,6-diphosphatase deficiency in fed state.Hypoglycaemia induced by fructose administration is one of the diagnostic clues to fructose-1,6-diphosphatase (FDPase) deficiency (McKusick 229700). However, the pathological mechanism of this reactive hypoglycaemia is not fully known. This paper describes two siblings with FDPase deficiency, diagnosed enzymatically in leukocytes, who failed to correct reactive hypoglycaemia after glucagon administration even in the fed state, supporting a possibility that disturbed hepatic phosphorylase activity may be a main cause of reactive hypoglycaemia.- - - - - - - - - - ranking = 1keywords = hypoglycaemia (Clic here for more details about this article) |
2/7. Severe acidosis in a neonate with pulmonary valve stenosis: a possible stress inducer of a fatal syndrome of fructose-1, 6-biphosphatase and aldolase deficiency.A neonate is described whose clinical condition rapidly and irreversibly deteriorated on day two. He developed a profound acidosis, hypoglycaemia and a shock-like syndrome. The infant was centrally cyanosed and had a systolic murmur from a moderately severe pulmonary valve stenosis and a small atrial septal defect. The overwhelming acidosis was inconsistent with the severity of the congenital heart defects and as no infection was found a metabolic cause was sought. liver tissue obtained at autopsy shortly after death on day four, showed deficiencies of fructose-1, 6-biphosphatase and aldolase.- - - - - - - - - - ranking = 0.33333333333333keywords = hypoglycaemia (Clic here for more details about this article) |
3/7. fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test.A Turkish boy had suffered since the age of 10 months from recurrent attacks of severe metabolic acidosis and hypoglycaemia precipitated by moderate respiratory tract infections. A liver biopsy showed lack of fructose 1,6-diphosphatase and absence of phosphorylase. The patient died in shock following fructose ingestion. Upon fasting, acidosis with increased lactate and glycerol excretion was found. Findings indicate that, in this inherited disorder of gluconeogenesis, lactic acidosis combined with increased glycerol excretion upon fasting are of diagnostic importance.- - - - - - - - - - ranking = 0.33333333333333keywords = hypoglycaemia (Clic here for more details about this article) |
4/7. Biochemical observations on a case of hepatic fructose-1,6-diphosphatase deficiency.A case of hepatic fructose-1,6-diphosphatase deficiency is described. She presented with congenital bilateral cataracts, failure to thrive, hypoglycaemia and hyperlactacidaemia. A liver biopsy revealed normal levels of gluconeogenic enzymes except fructose-1,6-diphosphatase which was present at 30% of the level of the lower control values. The residual activity had a normal affinity for fructose-1,6-diphosphate, a decreased sensitivity for inhibition by fructose-2,6-diphosphate and an increased resistance toward conversion to the AMP-insensitive form of the enzyme. As a result of this mutation, the residual FDPase will always be maintained in the AMP-inhibited form.- - - - - - - - - - ranking = 0.33333333333333keywords = hypoglycaemia (Clic here for more details about this article) |
5/7. glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency.A patient aged 23 months with fructose-1,6-diphosphatase deficiency is reported. This infant demonstrated an increased urine excretion of glycerol-3-phosphate during episodes of hypoglycaemia. The excretion of this compound has not previously been described in this disease or in those disorders associated with a deficiency in one of the other three gluconeogenic enzymes associated with hypoglycaemia. Its presence in the urine from patients may be useful in diagnosis.- - - - - - - - - - ranking = 0.66666666666667keywords = hypoglycaemia (Clic here for more details about this article) |
6/7. Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.Intermediary metabolite concentrations were measured in blood during fasting in two patients with fructose-1,6-bisphosphatase deficiency. Hypoglycaemia was accompanied by markedly raised levels of plasma free fatty acids, without the expected degree of ketosis. This suggests that there is secondary impairment of ketogenesis in this condition, and could lead to diagnostic confusion.- - - - - - - - - - ranking = 1.3333333333333keywords = hypoglycaemia (Clic here for more details about this article) |
7/7. Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency.Two sisters with fructose-1,6-diphosphatase deficiency are reported. They presented with ketonuria, elevated plasma transaminase activity and severe metabolic acidosis during hypoglycaemic crises, which resembled reye syndrome. Intravenous fructose tolerance tests provoked severe hypoglycaemia and metabolic acidosis. Fructose-1,6-diphosphatase activities in both peripheral leukocytes and cultured lymphocytes were below the limit of detection. Urinary organic acid analysis during crises revealed markedly increased excretion of lactate, ketone bodies, glycerol and glycerol-3-phosphate. We newly identified other glycolytic intermediates, glyceraldehyde, 3-phosphoglycerate and fructose-1,6-diphosphate, in the urine during hypoglycaemic attacks or after fructose tolerance tests. Identification of such compounds may be useful in the early diagnosis of this disease.- - - - - - - - - - ranking = 0.33333333333333keywords = hypoglycaemia (Clic here for more details about this article) |