Purine nucleoside phosphorylase deficiency
Overview
A very rare genetic disease involving an enzyme (purine nucleoside phosphorylase - PNP) deficiency which causes a buildup of toxic metabolic products which in turn impairs the development of T-cells (part of the body's immune system). The condition is characterized primarily by frequent infections and various neurological symptoms.
Symptoms
* Skin infections * Lung infections * Ear infections * Urinary tract infections * Candida * Viral infections * Anemia * Spastic tetraparesis * Reduced blood uric acid level * High blood inosine level * High blood guanosine level * Hypouricosuria * Excessive purines in urine * Ataxia * Tremor * Reduced muscle tone * Increased muscle tone * Mental retardation * Impaired motor development * Behavioral problems
Diagnosis
* Bladder & Urinary Health: Home Testing: * Home Bladder Tests * Home Urinary Tract Infection (UTI) Tests * Home Cystitis Tests * Home Kidney Tests * Home Urine Protein Tests (Kidney Function) * Home Prostate Cancer Tests * Prostate Health: Home Testing: * Home Prostate Tests * Home PSA Antigen Tests * Home Testosterone Tests * Kidney Health: Home Testing: * Home Microalbumin Tests (Kidney) * Home Urine Protein Tests (Kidney) * Home Urinary Tract Infection (UTI) Tests