Final answer:
HGPRT deficiency leads to increased uric acid levels because crucial purines are degraded rather than being recycled, causing conditions such as Lesch-Nyhan syndrome. Elevated uric acid can lead to gout, where uric acid crystals accumulate in joints. This can be measured using various methods and can be exacerbated by conditions like Von Gierke's disease and primary hyperoxaluria.
Step-by-step explanation:
Patients with Hypoxanthine Guanine Phospho Ribosyl Transferase (HGPRT) deficiency experience increased uric acid levels because HGPRT plays a crucial role in the salvage pathway of purine metabolism. In this pathway, purines such as guanine, xanthine, and hypoxanthine are not recycled but instead degraded into uric acid when HGPRT activity is lacking. This condition is prominently observed in male children with a genetic disorder known as Lesch-Nyhan syndrome, where there is a combination of neurological symptoms and hyperuricemia leading to gout and kidney dysfunction, among other issues.
The overproduction of uric acid can be due to various conditions, including excessive tissue destruction, where nucleic acids are released from dead cells and then converted into purines and eventually to uric acid. Gout is a painful condition where uric acid crystals accumulate in the joints due to excessive uric acid levels, which can exceed 7 mg/100 ml in the blood plasma. Methods of estimation of uric acid include the phosphotungstic acid method, Fehling's method, and using an Autoanalyzer.
In Von Gierke's disease, the HMP shunt pathway is overactive due to a deficiency of glucose-6-phosphatase, leading to the overproduction of ribose-5-phosphate and subsequently PRPP, increasing uric acid production. Other conditions, like orotic aciduria, can affect nucleotide synthesis, while primary hyperoxaluria involves the excessive excretion of oxalic acid due to enzyme deficiencies, leading to kidney problems and potentially affecting uric acid levels.