Primary hyperoxaluria. An analysis of 17 Scandinavian patients

Primary hyperoxaluria is a hereditary disease caused by an inborn error of glycine/glyoxalate metabolism. This study presents the results of a Scandinavian survey of patients with primary hyperoxaluria diagnosed and/or treated through the years 1967 to 1976. Altogether 17 patients, 13 males and four females, were reported. The age at onset of the disease varied between three months and 29 years and the age at diagnosis between eight months and 45 years. Ten of the patients were still alive at the end of 1976 at ages between 14 and 49 years. In diagnosing primary hyperoxaluria attention is paid to the simultaneous determinations of the urinary excretion of oxalic acid, glycolic acid and glyoxylic acid. None of the different therapeutic measures in primary hyperoxaluria have, so far, received extensive evaluation. At present, large doses of pyridoxine in combination with taurine seem worth further investigation with a larger number of patients.