1/6. glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/6. Tenofovir-related nephrotoxicity in human immunodeficiency virus-infected patients: three cases of renal failure, fanconi syndrome, and nephrogenic diabetes insipidus.We report 3 cases of renal toxicity associated with use of the antiviral agent tenofovir. Renal failure, proximal tubular dysfunction, and nephrogenic diabetes insipidus were observed, and, in 2 cases, renal biopsy revealed severe tubular necrosis with characteristic nuclear changes. patients receiving tenofovir must be monitored closely for early signs of tubulopathy (glycosuria, acidosis, mild increase in the plasma creatinine level, and proteinuria).- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
3/6. Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient.We have indentified a GT-to-TT transversion at the splice donor site of intron 8 in the glycosylasparaginase gene from an African American aspartylglucosaminuria (AGU) patient. This mutation causes abnormal splicing of glycosylasparaginase pre-mRNA by joining exon 7 to 9 and excluding 134 bp exon 8. The effect of the mutation is compounded by a frame shift that occurs after the deletion site resulting in premature translational termination. The truncated AGU protein was neither catalytically active nor processed into mature alpha and beta subunits. Both this and a previously characterized Finnish AGU mutation appear to affect folding of the single-chain precursor of glycosylasparaginase and thereby prevent transport of the enzyme to lysosomes.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/6. diabetes mellitus is controlled by vitamin C treatment.The present study was started to investigate the question of whether or not vitamin C administration may help control diabetes mellitus (DM) by stimulating the insulin mechanism of a DM patient. We were motivated to take up the above thesis by the anticipation that vitamin C, being detectable in abundance in endocrine cells, may play a cardinal role in the production of hormones. In the preliminary experiment, we investigated the relation between glucose, insulin and vitamin C in the plasma of a non-diabetic male volunteer in whom vitamin C was introduced intravenously either by injection or by infusion, and with or without concomitant administration of glucose. In the follow-up study of 3 DM patients, the effect of the vitamin C infusion therapy on DM was assessed by summing up multiple clinical information. Results obtained are as follows: 1) the drip infusion system was superior to the ordinary injection system for maintaining plasma concentration of vitamin C at a high level and for a long period. 2) The plasma concentration of insulin, when tested in the vitamin C infusion system, followed a bimodal curve--a finding to suggest that vitamin C may stimulate the insulin mechanism in 2 distinct ways. The early mode was glucose-dependent at its height, but the late mode was independent of glucose charge. 3) The praxis of vitamin C infusion produced clinical improvements in 3 DM patients. The therapeutic efficacy of the treatment varied from patient to patient. In all cases, control of DM was started by combined use of the vitamin C infusion treatment and the insulin injection treatment.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 10.89600110228keywords = vitamin (Clic here for more details about this article) |
5/6. Hypophosphataemic osteomalacia associated with a malignant tumour of the tibia: report of a case.A case of vitamin d resistant hypophosphataemic osteomalacia with glycosuria and aminoaciduria is reported. The course of the disease was dramatically altered by the removal of a bone sarcoma which probably had been growing slowly since the onset of the patient's symptoms five years previously. The histology and electron microscopy of the tumour are described. Three years after the operation the patient remains free of symptoms.- - - - - - - - - - ranking = 0.77828579302002keywords = vitamin (Clic here for more details about this article) |
6/6. blood glucose normalization-induced haemolysis in three adolescents with type 1 diabetes mellitus at onset and unknown G-6-PD deficiency.We present three adolescents unknown to be G-6-PD deficient who developed haemolytic anaemia after admission for diabetes at onset uncomplicated by ketoacidosis. These patients had no bacterial infections and had not ingested haemolytic drugs. The fall in glucose availability after the correction of hyperglycaemia is proposed as capable of inducing haemolysis in G-6-PD deficiency.- - - - - - - - - - ranking = 1.25keywords = deficiency (Clic here for more details about this article) |