Lesch-Nyhan syndrome and purine and pyrimidine metabolism didorders.
- Author:
Sook Za KIM
1
Author Information
1. Korea Genetics Research Center, Cheong Ju Children's Hospital, Korea. kimgene@unitel.co.kr
- Publication Type:Review
- Keywords:
Purine;
Pyrimidine;
Uric acid;
Nucleotide;
Self-injurious behavior
- MeSH:
Acute Kidney Injury;
Anemia;
Arthritis, Gouty;
Carbohydrate Metabolism;
Cerebral Palsy;
Coenzymes;
DNA;
Dyskinesias;
Failure to Thrive;
Hypoxanthine;
Lesch-Nyhan Syndrome*;
Metabolism*;
Orotic Acid;
Phospholipids;
Polynucleotides;
Purines;
Pyrimidine Nucleotides;
Pyrimidines;
RNA;
Self-Injurious Behavior;
Thymine;
Uracil;
Uric Acid;
Urinary Calculi;
Xanthine;
Biomarkers
- From:Hanyang Medical Reviews
2005;25(3):92-101
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Purine & pyrimidine nucleotides are basic constituents of cellular DNA and RNA polynucleotides. Their function includes regulation of cell metabolism and function, energy conservation and transport and formation of coenzymes and active intermediates of phospholipids and carbohydrate metabolism. The origin of cellular purines and pyrimidines is almost exclusively endogenous source, and the dietary purines play only a minor role. Diagnostic and clinical markers of purine and pyrimidine nucleotide disorders are the level of uric acid, xanthine, hypoxanthine, orotic acid, uracil, thymine, dihydrouracil, dihydrothymine, and succinyladenosine. Clinical manifestations of purine and pyrimidine metabolic disorders are crystalluria and acute renal failure, infections, failure to thrive, and anemia. One of purine metabolic disorders, Lesch-Nyhan disease, is X-linked recessive disorder, presenting motor delay, cerebral palsy, involuntary movements, self-injurious behavior, hyperurcemia, uricosuria, urinary calculi and gouty arthritis. Hypoxanthine-guanine phosphoribosyl transferase(HPRT) is deficient.
