Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0025362 (
mental retardation
)
15,878
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Lesch-Nyhan Syndrome is a disorder caused by congenital absence of a purine metabolic enzyme, hypoxanthine-guanine phosphoribosyl transferase (HPRT). This syndrome is characterized clinically by
mental retardation
, chorea, athetosis, hyperuricemia,
uricosuria
and self-mutilation. This report is of two children, who are cousins, both of whom have Lesch-Nyhan syndrome and presented with severe self-mutilation wounds on their lip(s). Vital pulpotomy and coronal resection was done as a more conservative approach than extracting all offending teeth. By maintaining the root portion of the teeth in the bone, it is expected that preservation of the alveolar bone will be achieved.
...
PMID:Oral self-mutilation in the Lesch-Nyhan syndrome. 1211 17
