Lesch-Nyhan syndrome and purine and pyrimidine metabolism didorders / 한양의대학술지
Hanyang Medical Reviews
;
: 92-101, 2005.
Article
in Korean
| WPRIM
| ID: wpr-177647
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Orotic Acid
/
Phospholipids
/
Polynucleotides
/
Purines
/
Pyrimidine Nucleotides
/
Pyrimidines
/
Thymine
/
Uracil
/
Uric Acid
/
DNA
Language:
Korean
Journal:
Hanyang Medical Reviews
Year:
2005
Type:
Article
Similar
MEDLINE
...
LILACS
LIS