Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The spectrum of orthopaedic problems in eight congenitally insensate patients was reviewed. The conditions included congenital insensitivity to pain, Riley-Day syndrome, and Lesch-Nyhan syndrome. In each of these conditions, the patient has an abnormality of interpretation of painful stimuli or lacks normal pain avoidance, leading to self-inflicted damage. The orthopaedic problems and complications included fracture, self-mutilation, autoamputation, osteomyelitis, septic arthritis, Charcot joints, scoliosis, and dislocation. Effective management consists of early diagnosis and patient/parent education to prevent as many complications as possible. Fractures may be treated conservatively, while progressive scoliosis requires operative intervention. Osteomyelitis, septic arthritis, and Charcot joints require appropriate operative treatment.
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PMID:Orthopaedic manifestations in congenitally insensate patients. 169 84

Lesch-Nyhan syndrome is a familial disorder of uric acid metabolism and dysfunction of the central nervous system. We present a patient with the syndrome, who had a defect of the left calcaneal tissue with osteomyelitis caused by repeated self-mutilation. The defect was reconstructed with a sural flap.
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PMID:Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap. 1653 60