Primary hyperoxaluria type I

Eur J Pediatr. 1990 May;149(8):518-22. doi: 10.1007/BF01957682.

Abstract

Primary hyperoxaluria type I is a metabolic disorder caused by the deficiency of the peroxisomal alanine:glyoxylate aminotransferase. The disease is inherited as an autosomal recessive trait. The clinical course is outlined based on data from 330 published cases. Diagnostic cornerstones are clinical parameters, urinary excretion of oxalate and glycolate, and the determination of enzyme activity in liver tissue. Principles of conservative treatment, e.g. volume load and pyridoxine substitution, are described as well as experience with different modes of dialysis and transplantation. Kidney transplantation is associated with a high rate of recurrence of the original disease despite excellent management resulting in many instances in early graft loss. Liver transplantation offers the possibility to correct the metabolic defect and to prevent the progression of crystal deposition in the body.

Publication types

  • Review

MeSH terms

  • Age Factors
  • Alanine Transaminase / deficiency*
  • Child
  • Combined Modality Therapy
  • Female
  • Genes, Recessive
  • Humans
  • Hyperoxaluria* / diagnosis
  • Hyperoxaluria* / enzymology
  • Hyperoxaluria* / genetics
  • Hyperoxaluria* / therapy
  • Hyperoxaluria, Primary* / complications
  • Hyperoxaluria, Primary* / diagnosis
  • Hyperoxaluria, Primary* / enzymology
  • Hyperoxaluria, Primary* / genetics
  • Hyperoxaluria, Primary* / metabolism
  • Hyperoxaluria, Primary* / therapy
  • Kidney Failure, Chronic / etiology
  • Kidney Transplantation
  • Liver / enzymology
  • Liver Transplantation
  • Pyridoxine / therapeutic use
  • Renal Dialysis
  • Transaminases*

Substances

  • Transaminases
  • Alanine Transaminase
  • Alanine-glyoxylate transaminase
  • Pyridoxine