Learn About Adenine Phosphoribosyltransferase Deficiency

What is the definition of 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.

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What are the causes of Adenine Phosphoribosyltransferase Deficiency?

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.

How prevalent is Adenine Phosphoribosyltransferase Deficiency?

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.

Is Adenine Phosphoribosyltransferase Deficiency an inherited disorder?

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.

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Who are the sources who wrote this article ?

Published Date: October 01, 2012Published By: National Institutes of Health

What are the Latest Advances for Adenine Phosphoribosyltransferase Deficiency?
A Case Report of 2,8-Dihydroxyadenine Urolithiasis.
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