Adenine: One of the four nucleotide bases that form DNA (the others are cytosine, guanine and thymine) which stores genetic information of all known living organisms
AGT (alanine-glyoxylate aminotransferase): A liver enzyme. Low levels of this enzyme create elevated levels of oxalate and this causes PH Type I.
Allopurinol: Medication used to treat APRT deficiency
Amino aciduria: Presence of amino acids in the urine. Normally amino acids are fully reabsorbed form the urine.
Analysis of kidney stones: Testing to elucidate the ingredients of kidney stones
Arginine: Non-essential amino acid (made only by the urea cycle)
Asymptomatic: No symptoms present
Autosomal: An autosome is a chromosome that is not a sex chromosome. The term autosomal refers to a hereditary condition that is transmitted with an autosome.
Autosomal recessive: In an autosomal recessive disease (like PH) the child inherits an abnormal gene from each parent. Each parent has one normal gene and one abnormal gene and doesn’t show signs of the disease. It takes 2 copies of an abnormal gene to cause PH.