Slideshows Images Quizzes

Copyright © 2018 by RxList Inc. RxList does not provide medical advice, diagnosis or treatment. See additional information.

Definition of Hyperoxaluria

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Hyperoxaluria: An hereditary disorder that causes a special type of stone to form in the kidney and the urine beginning in childhood. Also known as oxalosis.

The clinical features of this disease include the following:

  • Urinary tract: Stones in the urine and kidney that are composed of calcium oxalate and lead to kidney failure.
  • Cardiovascular: Heart block, insufficiency with spasm and even blockage of arteries.
  • Skin: Livedo reticularis (marble-like mottling) and acrocyanosis (blueness of the fingers and toes).
  • Skeleton: Pathologic fractures (bone breaks with minimal, if any, trauma).
  • Eyes: Optic neuropathy (optic nerve disease).

A key laboratory finding is deficiency of an enzyme called peroxisomal alanine: glyoxylate aminotransferase, the biochemical basis of this disease. Another key lab finding is continuous high urinary excretion of oxalate.

Inheritance of the disease is autosomal recessive with two separate loci. This means that the genes for this disease are on autosomes (non-sex chromosomes) and that parents carry one copy of such a gene and that the chance for each of their children to receive both of their genes and have the disease is 1 in 4 (25%). By "two loci" is meant that there are two genes at different spots in the human genome that are capable of causing this disease. Mutations at these two spots perturb the molecular system of protein "ZIP codes" and have been found to cause hyperoxaluria.

The course of the disease has usually been relentless, leading to death in childhood or early adult life.

Reviewed on 12/27/2018

Health Solutions From Our Sponsors