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.
Vidar Edvardsson practices in Reykjavik, Iceland. Edvardsson is rated as an Elite expert by MediFind in the treatment of Adenine Phosphoribosyltransferase Deficiency. They are also highly rated in 9 other conditions, according to our data. Their top areas of expertise are Adenine Phosphoribosyltransferase Deficiency, Kidney Stones, Dent Disease, Inborn Renal Aminoaciduria, 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. They are also highly rated in 8 other conditions, according to our data. Their top areas of expertise are Adenine Phosphoribosyltransferase Deficiency, Kidney Stones, Monoclonal Gammopathy of Undetermined Significance (MGUS), Kidney Transplant, and Heart Bypass Surgery.
Hrafnhildur Runolfsdottir practices in Reykjavik, Iceland. Runolfsdottir is rated as an Elite expert by MediFind in the treatment of Adenine Phosphoribosyltransferase Deficiency. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are Adenine Phosphoribosyltransferase Deficiency, Kidney Stones, Chronic Kidney Disease, Severe Acute Respiratory Syndrome (SARS), and Kidney Transplant.
Published Date: October 01, 2012Published By: National Institutes of Health