Adenine Phosphoribosyltransferase Deficiency

Definition

Definition of Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine urolithiasis) is an autosomal recessive metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.

Symptoms

Symptoms of Adenine Phosphoribosyltransferase Deficiency
Most patients with APRT deficiency have repeated episodes of kidney stones that are not detected by a conventional x-ray study. However, all stones are easily detected by other medical imaging methods such as ultrasound or computerized tomography (CT) scan. A minority of patients develop symptoms of kidney failure. Kidney stones are often associated with severe loin or abdominal pain. Symptoms associated with kidney failure are largely nonspecific such as increased fatigue and weakness, poor appetite, and weight loss. Children with the disease may have similar symptoms as adults. In young children, APRT deficiency can cause reddish-brown diaper spots.

Causes

Causes of Adenine Phosphoribosyltransferase Deficiency
Causes of Broader Categories of Adenine phosphoribosyltransferase deficiency.

1. Genetic conditions
2. Metabolic conditions
3. Congenital conditions - metabolic disorders
4. Congenital conditions

Diagnosis

Diagnosis of Adenine Phosphoribosyltransferase Deficiency
Consult with your doctor.

Treatment

Treatment of Adenine Phosphoribosyltransferase Deficiency
Consult with your doctor.

Prognosis

Prognosis of Adenine Phosphoribosyltransferase Deficiency
The list of complications that have been mentioned in various sources for Adenine phosphoribosyltransferase deficiency includes:

• Kidney failure