Primary hyperoxaluria type I (PH1) is a conformational disease which result in the loss of alanine:glyoxylate aminotransferase (AGT) function. The study of AGT has important implications for protein folding and trafficking because PH1 mutants may cause protein aggregation and mitochondrial mistargeting. We herein describe a multidisciplinary study aimed to understand the molecular basis of prot...

BACKGROUND Although autistic spectrum disorders (ASD) are a strongly genetic condition certain metabolic disturbances may contribute to clinical features. Metabolism of oxalate in children with ASD has not yet been studied. AIM The objective was to determine oxalate levels in plasma and urine in autistic children in relation to other urinary parameters. METHOD In this cross-sectional study,...

OBJECTIVE To report a case of an infant with endstage renal failure caused by primary hyperoxaluria. METHODS The review of the literature showed the rarity of the disease. In France, the prevalence is about 1.05/million and the incidence rate is 0.12/million/year. A survey, performed in international specialized centers in 1999, documented 78 cases in infants; in 14% of them the initial onset...

OBJECTIVES To give a comprehensive and focused overview on the current knowledge of the causal relations of metabolic syndrome and/or central obesity with kidney stone formation. METHODS Previous reports were reviewed using PubMed, with a strict focus on the keywords (single or combinations thereof): urolithiasis, nephrolithiasis, kidney stones, obesity, metabolic syndrome, bariatric surgery,...

A 74-year-old man presented to the renal unit 5 years ago with end-stage renal failure due to nephrocalcinosis. He has had numerous small bowel resections in the past for Crohn’s disease, resulting in short bowel syndrome. The nephrocalcinosis was due to hyperoxaluria. His abdominal radiograph (Figure 1) shows the cortical pattern of calcium oxalate crystal deposition seen in hyperoxaluria. He ...

Primary hyperoxaluria (PH) is an autosomal recessive metabolic abnormality characterized by excessive oxalate excretion leading to nephrocalcinosis and progressive renal dysfunction. Type I primary hyperoxaluria (PH I) results from a deficiency of alanine:glyoxylate aminotransferase, whereas type II disease has been traced to a deficiency of D-glycerate dehydrogenase. The two syndromes are ofte...

Hyperoxaluria type I (HPI) is a metabolic disorder secondary to liver alanine glyoxylate aminotransferase deficiency. Renal failure occurs due to the excessive production and precipitation of oxalate in the kidney. Combined liver-renal transplantation is the correct treatment for this condition when end-stage renal failure occurs since in renal transplantation alone the risk of recurrence of th...

Intratubular crystal deposition in transplanted patients is very rare and can be a cause of renal graft failure. Oxalate is a major component of the most common type of kidney stones, calcium oxalate stones. Hyperoxaluria is either inborn or acquired. Primary hyperoxaluria (PH) is a rare autosomal recessive disease resulting from deficiency of hepatic alanine:glyoxylate aminotransferase (AGT) (...

Urinary oxalate plays an important role in the formation of calcium oxalate stone, and endogenous oxalate metabolism mainly occurs in the liver. Since dehydroepiandrosterone (DHEA) is known to have an effect on hepatocellular proliferation and on some hepatic enzymes, we examined the influence of DHEA on the activity of hepatic oxalate-related enzymes and on urinary oxalate excretion in rats. F...

1. Seventeen healthy controls and 63 patients with idiopathic calcium stone disease of the urinary tract were investigated for urinary calcium and oxalate excretion and for [14C]oxalate intestinal absorption. 2. Under comparable controlled dietary intake a significant increase in calcium excretion as found in patients with stone disease. Oxalate excretion and [14C]oxalate intestinal absorption ...