Medical diagnosis, management and treatment of Lesch Nyhan Disease

Nucleosides, Nucleotides and Nucleic Acids

Volumn 23, Issue 8-9, 2004, Pages 1147-1152

  McCarthy, Gillian ^a  

^a Chailey Heritage Clinical Services   (United Kingdom)

Author keywords

Diagnosis; Lesch Nyhan Disease; Management; Treatment

Indexed keywords

ALLOPURINOL; BACLOFEN; CARBAMAZEPINE; CITRATE POTASSIUM; DIAZEPAM; GABAPENTIN; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LEVODOPA; TETRABENAZINE; URICOSURIC AGENT; VALPROIC ACID;

BLOOD SAMPLING; CHEMICAL ANALYSIS; CLUSTER ANALYSIS; CONFERENCE PAPER; HUMAN; LESCH NYHAN SYNDROME; LIFE EXPECTANCY; METABOLIC DISORDER; NEUROLOGIC DISEASE; PATIENT CARE; POSITRON EMISSION TOMOGRAPHY; PURINE METABOLISM; RESEARCH;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LESCH-NYHAN SYNDROME; MALE; NERVOUS SYSTEM DISEASES;

EID: 10344221062     PISSN: 15257770     EISSN: None     Source Type: Journal    
DOI: 10.1081/NCN-200027395     Document Type: Conference Paper

References (6)

1. Harris, J.C.; Schretlen, D.; Bryan, N.; Wong, D.F. Magnetic resonance imaging in Lesch-Nyhan disease: correlation of caudate nucleus volume and cognitive functioning. Society for Neuroscience Abstracts 1996, 22, 265.
2. Harris, J.C.; Lee, R.; Jinnah, H.A.; Wong, D.F.; Vaster, M.; Bryan, R.N. Craniocerebral Magnetic Resonance Imaging measurement and findings in Lesch-Nyhan Syndrome. Arch. Neurol. 1998, (55), 547-553.
3. Harris, J.C.; Wong, D.F.; Jinnah, H.A.; Schretlen, D.; Yorkoi, F.; Stephane, M.; Dogen, S. Dopamine transporter binding of WIN35,428 correlates with HPRT level and extent of movement disorder but not with self-injurious behaviour. In Abstracts Society for Neuroscience Annual Meeting; PUMPA and Chailey Heritage Clinical Services: Miama, Florida, 1999; (No 855.9).
4. Watts, R.W.E.; Harkness, R.A.; Spellacy, E.; Taylor, N.F. Lesch Nyhan Syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids. J. Inherit. Metab. Dis. 1987, 10, 210-233.
5. Schretlen, D.J.; Harris, J.C.; Park, K.S.; Jinnah, H.A.; Del Pozo, N.O. Neurocognitive functioning in Lesch-Nyhan Disease and partial hypoxanthine-guanine phosphoribosyl transferase deficiency. J. Int. Neuropsychol. Soc. 2001, 7, 805-812.
6. Robey, K.F.; Reck, J.F.; Giacomini, K.D.; Barabas, G.; Eddey, G.E. Modes and patterns of self-mutilation in persons with Lesch Nyhan Disease. Dev. Med. Child Neurol. 2003, 45, 167-171.