Adenine Phosphoribosyltransferase Deficiency Overview
Learn About Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine.
Mutations in the APRT gene cause APRT deficiency. This gene provides instructions for making APRT, an enzyme that helps to convert a DNA building block (nucleotide) called adenine to a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells.
APRT deficiency is estimated to affect 1 in 27,000 people in Japan. The condition is rarer in Europe, where it is thought to affect 1 in 50,000 to 100,000 people. The prevalence of APRT deficiency outside these populations is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Hrafnhildur Runolfsdottir practices in Reykjavik, Iceland. Runolfsdottir is rated as an Elite expert by MediFind in the treatment of Adenine Phosphoribosyltransferase Deficiency. Their top areas of expertise are Adenine Phosphoribosyltransferase Deficiency, Kidney Stones, Chronic Kidney Disease, Severe Acute Respiratory Syndrome (SARS), and Kidney Transplant.
Vidar Edvardsson practices in Reykjavik, Iceland. Edvardsson is rated as an Elite expert by MediFind in the treatment of Adenine Phosphoribosyltransferase Deficiency. Their top areas of expertise are Adenine Phosphoribosyltransferase Deficiency, Kidney Stones, Nephrocalcinosis, Dent Disease, and Kidney Transplant.
Runolfur Palsson practices in Reykjavik, Iceland. Palsson is rated as an Elite expert by MediFind in the treatment of Adenine Phosphoribosyltransferase Deficiency. Their top areas of expertise are Adenine Phosphoribosyltransferase Deficiency, Monoclonal Gammopathy of Undetermined Significance (MGUS), Kidney Stones, Kidney Transplant, and Heart Bypass Surgery.
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers...
Summary: The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the dise...
Published Date: October 01, 2012
Published By: National Institutes of Health