The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease.

Lauber, Matthias; Plecko, Barbara; Pfiffner, Miriam; Nuoffer, Jean-Marc; Häberle, Johannes (2017). The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease. JIMD reports, 32, pp. 51-57. Springer 10.1007/8904_2016_571

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BACKGROUND

Lesch-Nyhan disease (LND) is an X-chromosomal disorder of purine metabolism characterized by hyperuricemia, dystonia, and self-mutilation, leading to an extremely high burden of disease in affected patients and families. Although allopurinol therapy can control hyperuricemia, it has no effect on self-mutilation and neurological symptoms. Single reports describe a beneficial effect of S-adenosylmethionine (SAM) on the neurological symptoms, which motivated us to evaluate this alternative treatment.

METHODS

We performed a double-blind placebo-controlled trial to analyze the effects of SAM on self-mutilation attempts in a male patient affected by LND. The trial lasted for 282 days and comprised three alternating verum and placebo periods of 50 days each. The mother of the patient recorded attempts of self-mutilation during the entire trial.

RESULTS

While verum and placebo were both well tolerated, a total of 1,762 events of self-mutilation were recorded, of which 1,281 events were in the placebo period and 481 in the verum period. The daily mean of events was 8.6 with placebo and 4.5 with SAM corresponding to a 50 % decrease in self-mutilation events under SAM treatment (p < 0.05).

CONCLUSION

The results of this double-blind placebo-controlled single-case trial suggest that SAM can have a beneficial effect on self-mutilation in patients with LND, possibly by replenishing the purine pool in affected brain cells.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Nuoffer, Jean-Marc
Subjects:	600 Technology > 610 Medicine & health
ISSN:	2192-8304
Publisher:	Springer
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	22 Mar 2017 16:09
Last Modified:	05 Dec 2022 15:02
Publisher DOI:	10.1007/8904_2016_571
PubMed ID:	27295197
Uncontrolled Keywords:	Lesch–Nyhan disease; Placebo-controlled double-blind trial; S-Adenosylmethionine; Self-mutilation
URI:	https://boris.unibe.ch/id/eprint/95636