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Neuropediatrics 1976; 7(3): 351-355
DOI: 10.1055/s-0028-1091635
Case report

© 1976 by Thieme Medical Publishers, Inc.

An Autopsy Case of the Lesch-Nyhan Syndrome: Normal HGPRT Activity in Liver and Xanthine Calculi in Various Tissues

Teiichi Mizuno, H. Endoh, Y. Konishi, Y. Miyachi, I. Akaoka
  • Health Service Center, Ochanomizu University (T. M.), Department of Pathology, University of Tokyo (H. E.), Japanese Institute of Physical and Mental Handicapped Children (Y. K., Y. M.), and Department of Physical Therapy and Medicine, University of Tokyo (I. A.), Tokyo, Japan
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1976

1976

Publication Date:
18 November 2008 (online)

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Abstract

1. An autopsied case of the Lesch-Nyhan syndrome did not indicate the specific pathological features except delayed physical development. 2. Xanthine calculi caused by allopurinol administration scattered in the kidneys, brain, thymus, and thyroid glands, but its excretion into urine was not observed during his life. 3. Activities of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in various tissues indicate complete deficiency, but HGPRT in liver was normal.

Keyword

Lesch-Nyhan syndrome - HGPRT - xanthine stone - allopurinol