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.
Too much parathyroid hormone resulting in abnormally high levels of calcium in the blood (hypercalcemia). This can cause bone resorption and osteoporosis, calcium deposits in the kidneys, muscular weakness, nausea, vomiting, abdominal pains, and drowsiness. Hyperparathyroidism can be primary or secondary. Primary hyperparathyroidism is a disorder of the parathyroid glands in which one or more […]
An elevated level of phosphate in the blood. Higher-than-normal levels can be caused by ingestion of phosphate-rich foods, such as dairy products, or by kidney failure.
Dark spots on the skin. Hyperpigmentation is primarily a cosmetic concern that can be covered with makeup, although in some cases (such as the cafe au lait spots associated with neurofibromatosis) it can be a sign of an underlying medical problem.
An increase in the number of normal cells in a tissue or an organ. Hyperplasia can represent a precancerous condition.
- Hyperplasia of the prostate, nodular
Benign prostatic hyperplasia.