Hanyang Med Rev.  2005 Aug;25(3):92-101.

Lesch-Nyhan syndrome and purine and pyrimidine metabolism didorders

• Kim SZ

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.

Keyword

Purine; Pyrimidine; Uric acid; Nucleotide; Self-injurious behavior

MeSH Terms

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
Coenzymes
DNA
Hypoxanthine
Orotic Acid
Phospholipids
Polynucleotides
Purines
Pyrimidine Nucleotides
Pyrimidines
RNA
Thymine
Uracil
Uric Acid
Xanthine