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Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome.
The reaction of PRPP, glutamine, and ammonia forms 5-Phosphoribosyl-1-amine, a precursor to inosinate (IMP), which can ultimately be converted to adenosine triphosphate (ATP) or guanosine triphosphate (GTP). PRPP plays a role in purine salvage pathways by reacting with free purine bases to form adenylate, guanylate, and inosinate.
Phosphoribosyl pyrophosphate (PRPP) is a pentose phosphate. It is a biochemical intermediate in the formation of purine nucleotides via inosine-5-monophosphate , as well as in pyrimidine nucleotide formation.
Mutations in the gene lead to hyperuricemia.At least 67 disease-causing mutations in this gene have been discovered: [5] Some men have partial (up to 20% less activity of the enzyme) HGPRT deficiency that causes high levels of uric acid in the blood, which leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract.
Orotic acid and PRPP are stabilized in the active site mostly by hydrogen bonding with stabilizing interactions from Lys 26, Phe 34 and Phe 35 to orotic acid, as well as Thr 128, Ala 129, Gly 130, Ala 132, Asp 124, Lys 26 and Lys 73 to PRPP. [14] When Lys 26 is mutated, orotate phosphoribosyltransferase often exhibits reduced activity and ...
Infant respiratory distress syndrome (IRDS), also known as surfactant deficiency disorder (SDD), [2] and previously called hyaline membrane disease (HMD), is a syndrome in premature infants caused by developmental insufficiency of pulmonary surfactant production and structural immaturity in the lungs.
U.S. Surgeon General Dr. Vivek Murthy warned in a recent advisory about alcohol use increasing cancer risk. The advisory notes that alcohol can increase the risk of throat, liver, esophageal ...
Assess the patient to determine if other signs and symptoms are present: flushed face, hot, dry skin, low output, concentrated urine, anorexia, constipation, diarrhea, or vomiting. Older children may complain of sore throat, headaches, aching, and nausea, as well as, other symptoms. [17] Pulse should be checked at distal and proximal sites.