The Struggling Odyssey of Infantile Primary Hyperoxaluria

Primary Hyperoxaluria

Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism. They are responsible for progressive renal involvement, which further lead to systemic oxalate deposition, which can even occur in infants. Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency, a hepatic peroxisomal pyridoxin-depende...

Primary hyperoxaluria

Treatment of primary hyperoxaluria.

progress are discussed in relation to the known natural history of the disease. 6 of them probably have the usual form of primary hyperoxaluria associated with increased glycollic acid excretion, while 3 who are sibs have the recently described variant associated with L-glyceric aciduria and normal glycollic acid excretion. All 9 patients have been on regimens designed to increase the urinary s...

The action of pyridoxine in primary hyperoxaluria.

1. Evidence of deficiency of, antagonism to, or abnormal dependency upon pyridoxine has been sought in four patients with primary hyperoxaluria. The urinary excretion of kynurenine, 3-hydroxykyurenineY 3-hydroxyanthranilic acid, kynurenic acid and xanthurenic acid, before and after a loading dose of L-tryptophan was used to assess pyridoxine nutrition. 2. Three of the four patients studied had ...

The metabolic error in primary hyperoxaluria.

Knowledge of the incidence of a disease in successive generations of a family has value beyond the basis it provides for prediction of the health of future generations. Should the incidence suggest inheritance according to simple Mendelian rules, the disease probably has its origin in abnormality of a single genetic particle, though this has never been directly demonstrated. Garrod (1908) linke...