SNP Shot: Genomic Insights

Hereditary xanthinuria is a disorder primarily affecting the kidneys. Its hallmark is elevated levels of xanthine and markedly reduced levels of uric acid in blood and urine. This excess xanthine can deposit in the kidneys and other body tissues. Within the kidneys, xanthine precipitates into microscopic crystals, which can sometimes aggregate to form kidney stones. These stones can hinder kidney function and potentially lead to kidney failure. Associated symptoms may include abdominal pain, repeated urinary tract infections, and the presence of blood in the urine (hematuria). In rarer instances, xanthine crystals may accumulate in muscles, resulting in pain and muscle cramps. Notably, some individuals with hereditary xanthinuria experience no noticeable health issues.

Two primary forms of hereditary xanthinuria, type I and type II, have been identified by researchers. These types are differentiated based on the specific enzyme affected, but they manifest with similar signs and symptoms.

Inheritance:

This disorder follows an autosomal recessive inheritance pattern. This implies that both copies of the relevant gene in each cell must carry mutations for the condition to develop. Individuals with autosomal recessive disorders inherit one mutated gene copy from each parent, who are typically carriers and do not exhibit symptoms of the condition themselves.